Congenital defects of phagocytes: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(26 intermediate revisions by 2 users not shown)
Line 5: Line 5:


==Overview==
==Overview==
 
Phagocytes are crucial to the [[immune system]] as they have the ability to ingest and kill foreign [[pathogens]] encountered by the body. In [[congenital]] [[phagocyte]] cell defects, the ability of [[phagocytes]] to kill foreign [[pathogens]] is impaired, leading to widespread infections. [[Congenital defects]] of [[phagocytes]] can be divided into two types including defects of [[phagocyte]] number and defects of [[phagocyte]] function.
==Classification==
==Classification==


Line 22: Line 22:
{{Family tree | | B01 | | | | B02 | | | |B01=Syndrome associated|B02=No syndrome associated}}
{{Family tree | | B01 | | | | B02 | | | |B01=Syndrome associated|B02=No syndrome associated}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C01 | | |)| D01 | | |C01=Shwachman-Diamond syndrome|D01=Elastase deficiency (SCN1)}}
{{Family tree | |)| C01 | | |)| D01 | | |C01=[[Shwachman-Diamond syndrome]]|D01=Elastase deficiency (SCN1)}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C02 | | |)| D02 | | |C02=G6PC3 deficiency (SCN4)|D02=HAX1 deficiency (Kostmann Disease) (SCN3)}}
{{Family tree | |)| C02 | | |)| D02 | | |C02=G6PC3 deficiency (SCN4)|D02=HAX1 deficiency (Kostmann Disease) (SCN3)}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C03 | | |)| D03 | | |C03=Glycogen storage disease type 1b|D03=GFI 1 deficiency (SCN2)}}
{{Family tree | |)| C03 | | |)| D03 | | |C03=[[Glycogen storage disease type 1|Glycogen storage disease type 1b]]|D03=GFI 1 deficiency (SCN2)}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C04 | | |)| D04 | | |C04=Cohen syndrome|D04=X-linked neutropenia/myelodysplasia WAS GOF}}
{{Family tree | |)| C04 | | |)| D04 | | |C04=[[Cohen syndrome]]|D04=X-linked neutropenia/myelodysplasia WAS GOF}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C05 | | |)| D05 | | |C05=Barth Syndrome|D05=G-CSF receptor deficiency}}
{{Family tree | |)| C05 | | |)| D05 | | |C05=[[Barth Syndrome]]|D05=G-CSF receptor deficiency}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |!| | | | | |!| | | | | |}}
{{Family tree | |)| C06 | | |`| D06 | | |C06=Clericuzio syndrome (poikiloderma with neutropenia)|D06=Neutropenia with combined immune deficiency}}
{{Family tree | |)| C06 | | |`| D06 | | |C06=Clericuzio syndrome (poikiloderma with neutropenia)|D06=Neutropenia with combined immune deficiency}}
Line 40: Line 40:
{{Family tree | |)| C09 | | | | | | | | |C09=JAGN1 deficiency}}
{{Family tree | |)| C09 | | | | | | | | |C09=JAGN1 deficiency}}
{{Family tree | |!| | | | | | | | | | | |}}
{{Family tree | |!| | | | | | | | | | | |}}
{{Family tree | |)| C10 | | | | | | | | |C10=methylglutacoic aciduria}}
{{Family tree | |)| C10 | | | | | | | | |C10=[[3-methylglutaconic aciduria]]}}
{{Family tree | |!| | | | | | | | | | | |}}
{{Family tree | |!| | | | | | | | | | | |}}
{{Family tree | |)| C11 | | | | | | | | |C11=SMARCD2 deficiency}}
{{Family tree | |)| C11 | | | | | | | | |C11=SMARCD2 deficiency}}
Line 57: Line 57:
{{Family tree | | B01 | | | | | | B02 | | | | | |B01=Syndrome associated|B02=No Syndrome associated;DHR assay(or NBT test)?}}
{{Family tree | | B01 | | | | | | B02 | | | | | |B01=Syndrome associated|B02=No Syndrome associated;DHR assay(or NBT test)?}}
{{Family tree | |!| | | | | | |,|-|^|-|-|.| | | |}}
{{Family tree | |!| | | | | | |,|-|^|-|-|.| | | |}}
{{Family tree | |)| C01 | | | C02 | | | C03 | | |C01=Cystic Fibrosis|C02=Normal|C03=Abnormal}}
{{Family tree | |)| C01 | | | C02 | | | C03 | | |C01=[[Cystic Fibrosis]]|C02=Normal|C03=Abnormal}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |)| D01 | | |)| D02 | |)| D03 | |D01=Papillion-Lefèvre|D02=GATA2 def (MonoMac syndrome|D03=CGD}}
{{Family tree | |)| D01 | | |)| D02 | |)| D03 | |D01=Papillion-Lefèvre|D02=GATA2 def (MonoMac syndrome|D03=[[Chronic granulomatous disease]]}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |)| E01 | | |)| E02 | |)| E03 | |E01=Localized juvenile periodontitis|E02=Specific granule deficiency|E03=Rac 2 deficiency}}
{{Family tree | |)| E01 | | |)| E02 | |)| E03 | |E01=Localized juvenile periodontitis|E02=Specific granule deficiency|E03=Rac 2 deficiency}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |!| | | | | |!| | | | |!| | | | |}}
{{Family tree | |)| F01 | | |`| F02 | |`| F03 | |F01=B-Actin|F02=Pulmonary alveolar proteinosis|F03=G6PD def Class 1}}
{{Family tree | |)| F01 | | |`| F02 | |`| F03 | |F01=B-Actin|F02=[[Pulmonary alveolar proteinosis]]|F03=[[Glucose-6-phosphate dehydrogenase deficiency]] Class 1}}
{{Family tree | |!| | | | | | | | | | | | | | | |}}
{{Family tree | |!| | | | | | | | | | | | | | | |}}
{{Family tree | |`| G01 | | | | | | | | | | | | |G01=Leukocyte adhesion deficiency}}
{{Family tree | |`| G01 | | | | | | | | | | | | |G01=[[Leukocyte adhesion deficiency]]}}


{{Family tree/end}}
{{Family tree/end}}
Line 71: Line 71:


==Shwachman-Diamond Syndrome==
==Shwachman-Diamond Syndrome==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by compound heterozygous or homozygous mutations in the SBDS gene on [[chromosome 7]].
| author = [[H. Ginzberg]], [[J. Shin]], [[L. Ellis]], [[S. Goobie]], [[J. Morrison]], [[M. Corey]], [[P. R. Durie]] & [[J. M. Rommens]]
*Patients present with [[exocrine]] pancreatic dysfunction, bony metaphyseal dysostosis, and [[Pancytopenia|pancytopenias]].<ref>{{Cite journal
| title = Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance
| journal = [[American journal of human genetics]]
| volume = 66
| issue = 4
| pages = 1413–1416
| year = 2000
| month = April
| doi = 10.1086/302856
| pmid = 10739765
}}</ref>
*It is caused by compound heterozygous or homozygous mutations in the SBDS gene on [[chromosome 7]].<ref>{{cite journal |vauthors=Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM |title=Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance |journal=Am. J. Hum. Genet. |volume=66 |issue=4 |pages=1413–6 |date=April 2000 |pmid=10739765 |pmc=1288206 |doi=10.1086/302856 |url=}}</ref>
*Patients present with [[exocrine]] [[pancreatic]] dysfunction, bony metaphyseal dysostosis, and [[Pancytopenia|pancytopenias]].<ref>{{Cite journal
  | author = [[Yigal Dror]] & [[Melvin H. Freedman]]
  | author = [[Yigal Dror]] & [[Melvin H. Freedman]]
  | title = Shwachman-diamond syndrome
  | title = Shwachman-diamond syndrome
Line 95: Line 106:
  | pmid = 7174939
  | pmid = 7174939
}}</ref>
}}</ref>
For more information on [[Shwachman-Diamond syndrome]], [[Shwachman-Diamond syndrome|click here]].


==G6PC3 deficiency==
==G6PC3 deficiency==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous mutation in the G6PC3 gene on chromosome 17.
*Patients present with congenital neutropenia, cardiac abnormalities, inner ear deafness, neonatal sepsis and a prominent superficial venous pattern.<ref>{{Cite journal
  | author = [[Kaan Boztug]], [[Giridharan Appaswamy]], [[Angel Ashikov]], [[Alejandro A. Schaffer]], [[Ulrich Salzer]], [[Jana Diestelhorst]], [[Manuela Germeshausen]], [[Gudrun Brandes]], [[Jacqueline Lee-Gossler]], [[Fatih Noyan]], [[Anna-Katherina Gatzke]], [[Milen Minkov]], [[Johann Greil]], [[Christian Kratz]], [[Theoni Petropoulou]], [[Isabelle Pellier]], [[Christine Bellanne-Chantelot]], [[Nima Rezaei]], [[Kirsten Monkemoller]], [[Noha Irani-Hakimeh]], [[Hans Bakker]], [[Rita Gerardy-Schahn]], [[Cornelia Zeidler]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | author = [[Kaan Boztug]], [[Giridharan Appaswamy]], [[Angel Ashikov]], [[Alejandro A. Schaffer]], [[Ulrich Salzer]], [[Jana Diestelhorst]], [[Manuela Germeshausen]], [[Gudrun Brandes]], [[Jacqueline Lee-Gossler]], [[Fatih Noyan]], [[Anna-Katherina Gatzke]], [[Milen Minkov]], [[Johann Greil]], [[Christian Kratz]], [[Theoni Petropoulou]], [[Isabelle Pellier]], [[Christine Bellanne-Chantelot]], [[Nima Rezaei]], [[Kirsten Monkemoller]], [[Noha Irani-Hakimeh]], [[Hans Bakker]], [[Rita Gerardy-Schahn]], [[Cornelia Zeidler]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | title = A syndrome with congenital neutropenia and mutations in G6PC3
  | title = A syndrome with congenital neutropenia and mutations in G6PC3
Line 111: Line 121:
  | pmid = 19118303
  | pmid = 19118303
}}</ref>
}}</ref>
*G6PC3 stands for glucose-6-phosphatase catalytic 3.
*It is caused by homozygous mutation in the G6PC3 gene on [[chromosome 17]].
*Patients present with congenital [[neutropenia]], cardiac abnormalities, inner ear deafness, [[neonatal sepsis]] and a prominent superficial venous pattern.


==Glycogen storage disease type 1b==
==Glycogen storage disease type 1b==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{cite journal |vauthors=Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K |title=Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11 |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue=2 |pages=426–31 |date=July 1998 |pmid=9675154 |doi=10.1006/bbrc.1998.8985 |url=}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on chromosome 11.
*It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on [[chromosome 11]].
*Patients present with short stature, hepatomegaly, hypertension, eruptive xanthoma and hyperlipidemia.<ref>{{Cite journal
*Patients present with [[short stature]], [[Hepatomegaly (new)|hepatomegaly]], [[Hypertension, systemic|hypertension]], [[Xanthoma|eruptive xanthoma]] and [[hyperlipidemia]].<ref>{{Cite journal
  | author = [[T. Kuzuya]], [[A. Matsuda]], [[S. Yoshida]], [[K. Narisawa]], [[K. Tada]], [[T. Saito]] & [[M. Matsushita]]
  | author = [[T. Kuzuya]], [[A. Matsuda]], [[S. Yoshida]], [[K. Narisawa]], [[K. Tada]], [[T. Saito]] & [[M. Matsushita]]
  | title = An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies
  | title = An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies
Line 127: Line 140:
  | pmid = 6298622
  | pmid = 6298622
}}</ref>
}}</ref>
For more information on [[glycogen storage disease type 1b]], [[Glycogen storage disease type 1B|click here]].


==Cohen Syndrome==
==Cohen Syndrome==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutations in the COH1 gene on chromosome 8.
*Patients present with nonprogressive psychomotor retardation, motor clumsiness, microcephaly, high-arched eyelids, short philtrum, thick hair, low hairline, hypotonia, hyperextensibility of the joints, retinochoroidal dystrophy, myopia, and granulocytopenia.<ref>{{Cite journal
  | author = [[S. Kivitie-Kallio]] & [[R. Norio]]
  | author = [[S. Kivitie-Kallio]] & [[R. Norio]]
  | title = Cohen syndrome: essential features, natural history, and heterogeneity
  | title = Cohen syndrome: essential features, natural history, and heterogeneity
Line 142: Line 154:
  | pmid = 11477603
  | pmid = 11477603
}}</ref>
}}</ref>
*It is caused by homozygous or compound heterozygous mutations in the COH1 gene on [[chromosome 8]].
*Patients present with non-progressive [[psychomotor retardation]], motor clumsiness, [[microcephaly]], high-arched eyelids, short philtrum, thick hair, low hairline, [[hypotonia]], hyperextensibility of the joints, retinochoroidal dystrophy, myopia, and [[granulocytopenia]].
For more information on [[Cohen Syndrome]], [[Cohen Syndrome|click here]].


==Barth Syndrome==
==Barth Syndrome==
*X-linked recessive(XLR) transmission.
*[[X-linked recessive]] (XLR) transmission.<ref>{{Cite journal
*It is caused by mutation in the tafazzin gene (TAZ) on chromosome X.
*Patients present with  dilated cardiomyopathy, a predominantly proximal skeletal myopathy, growth retardation, organic aciduria, and neutropenia.<ref>{{Cite journal
  | author = [[P. G. Barth]], [[H. R. Scholte]], [[J. A. Berden]], [[J. M. Van der Klei-Van Moorsel]], [[I. E. Luyt-Houwen]], [[E. T. Van 't Veer-Korthof]], [[J. J. Van der Harten]] & [[M. A. Sobotka-Plojhar]]
  | author = [[P. G. Barth]], [[H. R. Scholte]], [[J. A. Berden]], [[J. M. Van der Klei-Van Moorsel]], [[I. E. Luyt-Houwen]], [[E. T. Van 't Veer-Korthof]], [[J. J. Van der Harten]] & [[M. A. Sobotka-Plojhar]]
  | title = An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
  | title = An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
Line 157: Line 170:
  | pmid = 6142097
  | pmid = 6142097
}}</ref>
}}</ref>
*It is caused by mutation in the tafazzin gene (TAZ) on [[X chromosome|chromosome X]].
*Patients present with [[dilated cardiomyopathy]], a predominantly proximal skeletal [[myopathy]], [[growth retardation]], [[organic aciduria]], and [[neutropenia]].
For more information on [[Barth Syndrome]], [[Barth Syndrome|click here]].


==Clericuzio syndrome (poikiloderma with neutropenia)==
==Clericuzio syndrome (poikiloderma with neutropenia)==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the USB1 gene on chromosome 16.
*Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. Neutropenia may also be present.<ref>{{Cite journal
  | author = [[R. P. Erickson]]
  | author = [[R. P. Erickson]]
  | title = Southwestern Athabaskan (Navajo and Apache) genetic diseases
  | title = Southwestern Athabaskan (Navajo and Apache) genetic diseases
Line 173: Line 187:
  | pmid = 11258351
  | pmid = 11258351
}}</ref>
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the USB1 gene on [[chromosome 16]].
*Patients present with a gradual, centripetally spreading, [[Erythematous rash|papular erythematous rash]] on the limbs during the first year of life. [[Neutropenia]] may also be present.


==VPS45 deficiency (SCN5)==
==VPS45 deficiency==
*Autosomal recessive(AR) transmission.
*Also known as severe congenital neutropenia-5 (SCN5).
*It is caused by homozygous mutation in the VPS45 gene on chromosome 1.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*Patients present in childhood with poor weight gain, hepatosplenomegaly, severe infections, hypergammaglobulinemia, nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.<ref>{{Cite journal
  | author = [[Thierry Vilboux]], [[Atar Lev]], [[May Christine V. Malicdan]], [[Amos J. Simon]], [[Paivi Jarvinen]], [[Tomas Racek]], [[Jacek Puchalka]], [[Raman Sood]], [[Blake Carrington]], [[Kevin Bishop]], [[James Mullikin]], [[Marjan Huizing]], [[Ben Zion Garty]], [[Eran Eyal]], [[Baruch Wolach]], [[Ronit Gavrieli]], [[Amos Toren]], [[Michalle Soudack]], [[Osama M. Atawneh]], [[Tatiana Babushkin]], [[Ginette Schiby]], [[Andrew Cullinane]], [[Camila Avivi]], [[Sylvie Polak-Charcon]], [[Iris Barshack]], [[Ninette Amariglio]], [[Gideon Rechavi]], [[Jutte van der Werff ten Bosch]], [[Yair Anikster]], [[Christoph Klein]], [[William A. Gahl]] & [[Raz Somech]]
  | author = [[Thierry Vilboux]], [[Atar Lev]], [[May Christine V. Malicdan]], [[Amos J. Simon]], [[Paivi Jarvinen]], [[Tomas Racek]], [[Jacek Puchalka]], [[Raman Sood]], [[Blake Carrington]], [[Kevin Bishop]], [[James Mullikin]], [[Marjan Huizing]], [[Ben Zion Garty]], [[Eran Eyal]], [[Baruch Wolach]], [[Ronit Gavrieli]], [[Amos Toren]], [[Michalle Soudack]], [[Osama M. Atawneh]], [[Tatiana Babushkin]], [[Ginette Schiby]], [[Andrew Cullinane]], [[Camila Avivi]], [[Sylvie Polak-Charcon]], [[Iris Barshack]], [[Ninette Amariglio]], [[Gideon Rechavi]], [[Jutte van der Werff ten Bosch]], [[Yair Anikster]], [[Christoph Klein]], [[William A. Gahl]] & [[Raz Somech]]
  | title = A congenital neutrophil defect syndrome associated with mutations in VPS45
  | title = A congenital neutrophil defect syndrome associated with mutations in VPS45
Line 189: Line 204:
  | pmid = 23738510
  | pmid = 23738510
}}</ref>
}}</ref>
*It is caused by homozygous mutation in the VPS45 gene on [[chromosome 1]].
*Patients present in childhood with poor weight gain, [[hepatosplenomegaly]], severe infections, [[hypergammaglobulinemia]], nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.


==P14/LAMTOR2 deficiency==
==P14/LAMTOR2 deficiency==
*Autosomal recessive(AR) transmission.
*LAMTOR2 stands for late endosomal/lysosomal adaptor, MAPK AND MTOR activator 2.
*Patients present with short stature, hypopigmeted skin, coarse facial features and recurrent bronchopulmonary infections.<ref>{{Cite journal
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
  | author = [[Georg Bohn]], [[Anna Allroth]], [[Gudrun Brandes]], [[Jens Thiel]], [[Erik Glocker]], [[Alejandro A. Schaffer]], [[Chozhavendan Rathinam]], [[Nicole Taub]], [[David Teis]], [[Cornelia Zeidler]], [[Ricardo A. Dewey]], [[Robert Geffers]], [[Jan Buer]], [[Lukas A. Huber]], [[Karl Welte]], [[Bodo Grimbacher]] & [[Christoph Klein]]
  | author = [[Georg Bohn]], [[Anna Allroth]], [[Gudrun Brandes]], [[Jens Thiel]], [[Erik Glocker]], [[Alejandro A. Schaffer]], [[Chozhavendan Rathinam]], [[Nicole Taub]], [[David Teis]], [[Cornelia Zeidler]], [[Ricardo A. Dewey]], [[Robert Geffers]], [[Jan Buer]], [[Lukas A. Huber]], [[Karl Welte]], [[Bodo Grimbacher]] & [[Christoph Klein]]
  | title = A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
  | title = A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
Line 204: Line 221:
  | pmid = 17195838
  | pmid = 17195838
}}</ref>
}}</ref>
*Patients present with [[short stature]], [[Hypopigmentation|hypopigmented]] skin, [[coarse facial features]] and recurrent bronchopulmonary [[infections]].
      
      
==JAGN1 deficiency==
==JAGN1 deficiency==
*Autosomal recessive(AR) transmission.
*JAGN stands for jagunal drosophila homolog of 1.
*Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.<ref>{{Cite journal
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
  | author = [[Kaan Boztug]], [[Paivi M. Jarvinen]], [[Elisabeth Salzer]], [[Tomas Racek]], [[Sebastian Monch]], [[Wojciech Garncarz]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Aristotelis Antonopoulos]], [[Stuart M. Haslam]], [[Lena Schieck]], [[Jacek Puchalka]], [[Jana Diestelhorst]], [[Giridharan Appaswamy]], [[Brigitte Lescoeur]], [[Roberto Giambruno]], [[Johannes W. Bigenzahn]], [[Ulrich Elling]], [[Dietmar Pfeifer]], [[Cecilia Dominguez Conde]], [[Michael H. Albert]], [[Karl Welte]], [[Gudrun Brandes]], [[Roya Sherkat]], [[Jutte van der Werff Ten Bosch]], [[Nima Rezaei]], [[Amos Etzioni]], [[Christine Bellanne-Chantelot]], [[Giulio Superti-Furga]], [[Josef M. Penninger]], [[Keiryn L. Bennett]], [[Julia von Blume]], [[Anne Dell]], [[Jean Donadieu]] & [[Christoph Klein]]
  | author = [[Kaan Boztug]], [[Paivi M. Jarvinen]], [[Elisabeth Salzer]], [[Tomas Racek]], [[Sebastian Monch]], [[Wojciech Garncarz]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Aristotelis Antonopoulos]], [[Stuart M. Haslam]], [[Lena Schieck]], [[Jacek Puchalka]], [[Jana Diestelhorst]], [[Giridharan Appaswamy]], [[Brigitte Lescoeur]], [[Roberto Giambruno]], [[Johannes W. Bigenzahn]], [[Ulrich Elling]], [[Dietmar Pfeifer]], [[Cecilia Dominguez Conde]], [[Michael H. Albert]], [[Karl Welte]], [[Gudrun Brandes]], [[Roya Sherkat]], [[Jutte van der Werff Ten Bosch]], [[Nima Rezaei]], [[Amos Etzioni]], [[Christine Bellanne-Chantelot]], [[Giulio Superti-Furga]], [[Josef M. Penninger]], [[Keiryn L. Bennett]], [[Julia von Blume]], [[Anne Dell]], [[Jean Donadieu]] & [[Christoph Klein]]
  | title = JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
  | title = JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Line 219: Line 237:
  | pmid = 25129144
  | pmid = 25129144
}}</ref>
}}</ref>
*Patients present with aberrant myeloid cell homeostasis and congenital [[neutropenia]].


==3-Methylglutaconic aciduria==
==3-Methylglutaconic aciduria==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11, which leads to by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia.
*Patients present with delayed psychomotor development, congenital neutropenia, brain atrophy, microcephaly, movement disorders and cataracts.<ref>{{Cite journal
  | author = [[Saskia B. Wortmann]], [[Szymon Zietkiewicz]], [[Maria Kousi]], [[Radek Szklarczyk]], [[Tobias B. Haack]], [[Soren W. Gersting]], [[Ania C. Muntau]], [[Aleksandar Rakovic]], [[G. Herma Renkema]], [[Richard J. Rodenburg]], [[Tim M. Strom]], [[Thomas Meitinger]], [[M. Estela Rubio-Gozalbo]], [[Elzbieta Chrusciel]], [[Felix Distelmaier]], [[Christelle Golzio]], [[Joop H. Jansen]], [[Clara van Karnebeek]], [[Yolanda Lillquist]], [[Thomas Lucke]], [[Katrin Ounap]], [[Riina Zordania]], [[Joy Yaplito-Lee]], [[Hans van Bokhoven]], [[Johannes N. Spelbrink]], [[Frederic M. Vaz]], [[Mia Pras-Raves]], [[Rafal Ploski]], [[Ewa Pronicka]], [[Christine Klein]], [[Michel A. A. P. Willemsen]], [[Arjan P. M. de Brouwer]], [[Holger Prokisch]], [[Nicholas Katsanis]] & [[Ron A. Wevers]]
  | author = [[Saskia B. Wortmann]], [[Szymon Zietkiewicz]], [[Maria Kousi]], [[Radek Szklarczyk]], [[Tobias B. Haack]], [[Soren W. Gersting]], [[Ania C. Muntau]], [[Aleksandar Rakovic]], [[G. Herma Renkema]], [[Richard J. Rodenburg]], [[Tim M. Strom]], [[Thomas Meitinger]], [[M. Estela Rubio-Gozalbo]], [[Elzbieta Chrusciel]], [[Felix Distelmaier]], [[Christelle Golzio]], [[Joop H. Jansen]], [[Clara van Karnebeek]], [[Yolanda Lillquist]], [[Thomas Lucke]], [[Katrin Ounap]], [[Riina Zordania]], [[Joy Yaplito-Lee]], [[Hans van Bokhoven]], [[Johannes N. Spelbrink]], [[Frederic M. Vaz]], [[Mia Pras-Raves]], [[Rafal Ploski]], [[Ewa Pronicka]], [[Christine Klein]], [[Michel A. A. P. Willemsen]], [[Arjan P. M. de Brouwer]], [[Holger Prokisch]], [[Nicholas Katsanis]] & [[Ron A. Wevers]]
  | title = CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
  | title = CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Line 235: Line 252:
  | pmid = 25597510
  | pmid = 25597510
}}</ref>
}}</ref>
       
*It is caused by homozygous or compound heterozygous mutation in the CLPB gene on [[chromosome 11]], which leads to by increased levels of [[3-methylglutaconic acid]] (3-MGA) associated with [[neurologic]] deterioration and [[neutropenia]].
*Patients present with delayed psychomotor development, congenital [[neutropenia]], [[brain atrophy]], [[microcephaly]], [[movement disorders]] and [[cataracts]].
For more information on [[3-methylglutaconic aciduria]], [[3-methyl glutaconic aciduria|click here]].
 
==SMARCD2 deficiency==
==SMARCD2 deficiency==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by a mutation in the SMARCD2 gene on chromosome 17.<ref>{{Cite journal
| author = [[Maximilian Witzel]], [[Daniel Petersheim]], [[Yanxin Fan]], [[Ehsan Bahrami]], [[Tomas Racek]], [[Meino Rohlfs]], [[Jacek Puchalka]], [[Christian Mertes]], [[Julien Gagneur]], [[Christoph Ziegenhain]], [[Wolfgang Enard]], [[Asbjorg Stray-Pedersen]], [[Peter D. Arkwright]], [[Miguel R. Abboud]], [[Vahid Pazhakh]], [[Graham J. Lieschke]], [[Peter M. Krawitz]], [[Maik Dahlhoff]], [[Marlon R. Schneider]], [[Eckhard Wolf]], [[Hans-Peter Horny]], [[Heinrich Schmidt]], [[Alejandro A. Schaffer]] & [[Christoph Klein]]
| title = Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
| journal = [[Nature genetics]]
| volume = 49
| issue = 5
| pages = 742–752
| year = 2017
| month = May
| doi = 10.1038/ng.3833
| pmid = 28369036
}}</ref>
*SMARCD2 stands for SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2.
*It is caused by a mutation in the [[SMARCD2|SMARCD2 gene]] on [[chromosome 17]].<ref>{{Cite journal
  | author = [[H. Z. Ring]], [[V. Vameghi-Meyers]], [[W. Wang]], [[G. R. Crabtree]] & [[U. Francke]]
  | author = [[H. Z. Ring]], [[V. Vameghi-Meyers]], [[W. Wang]], [[G. R. Crabtree]] & [[U. Francke]]
  | title = Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome
  | title = Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome
Line 250: Line 282:
  | pmid = 9693044
  | pmid = 9693044
}}</ref>
}}</ref>
*Patients present with myelodysplasia, bone defects and developmental abnormalities.
*Patients present with [[myelodysplasia]], bone defects and developmental abnormalities.


==WDR1 deficiency==
==WDR1 deficiency==
*Autosomal recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.
*It is caused by mutation in the WDR1 gene on chromosome 4.<ref>{{Cite journal
*WDR1 stands for WD repeat-containing protein 1.
*It is caused by mutation in the [[WDR1]] gene on [[chromosome 4]].<ref>{{Cite journal
  | author = [[H. J. Adler]], [[R. S. Winnicki]], [[T. W. Gong]] & [[M. I. Lomax]]
  | author = [[H. J. Adler]], [[R. S. Winnicki]], [[T. W. Gong]] & [[M. I. Lomax]]
  | title = A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein
  | title = A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein
Line 266: Line 299:
  | pmid = 10036186
  | pmid = 10036186
}}</ref>
}}</ref>
*Patients present with recurrent infections, mild neutropenia, impaired wound healing and severe stomatitis with oral stenosis.<ref>{{Cite journal
*Patients present with recurrent [[infections]], mild [[neutropenia]], [[impaired wound healing]] and severe [[stomatitis]] with oral stenosis.<ref>{{Cite journal
  | author = [[Douglas B. Kuhns]], [[Danielle L. Fink]], [[Uimook Choi]], [[Colin Sweeney]], [[Karen Lau]], [[Debra Long Priel]], [[Dara Riva]], [[Laura Mendez]], [[Gulbu Uzel]], [[Alexandra F. Freeman]], [[Kenneth N. Olivier]], [[Victoria L. Anderson]], [[Robin Currens]], [[Vanessa Mackley]], [[Allison Kang]], [[Mehdi Al-Adeli]], [[Emily Mace]], [[Jordan S. Orange]], [[Elizabeth Kang]], [[Stephen J. Lockett]], [[De Chen]], [[Peter J. Steinbach]], [[Amy P. Hsu]], [[Kol A. Zarember]], [[Harry L. Malech]], [[John I. Gallin]] & [[Steven M. Holland]]
  | author = [[Douglas B. Kuhns]], [[Danielle L. Fink]], [[Uimook Choi]], [[Colin Sweeney]], [[Karen Lau]], [[Debra Long Priel]], [[Dara Riva]], [[Laura Mendez]], [[Gulbu Uzel]], [[Alexandra F. Freeman]], [[Kenneth N. Olivier]], [[Victoria L. Anderson]], [[Robin Currens]], [[Vanessa Mackley]], [[Allison Kang]], [[Mehdi Al-Adeli]], [[Emily Mace]], [[Jordan S. Orange]], [[Elizabeth Kang]], [[Stephen J. Lockett]], [[De Chen]], [[Peter J. Steinbach]], [[Amy P. Hsu]], [[Kol A. Zarember]], [[Harry L. Malech]], [[John I. Gallin]] & [[Steven M. Holland]]
  | title = Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency
  | title = Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency
Line 280: Line 313:
      
      
==HYOU1 deficiency==
==HYOU1 deficiency==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.
*It is caused by mutation in the HYOU1 gene on chromosome 11.
*HYOU1 stands for hypoxia up-regulated 1.
*Patients present with hypoglycemia and infections.
*It is caused by mutation in the [[HYOU1]] gene on [[chromosome 11]].
*Patients present with [[hypoglycemia]] and [[infections]].


==Elastase deficiency (SCN1)==
==Elastase deficiency (Severe Congenital Neutropenia 1)==
*Autosomal dominant (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*It is caused by a mutation in the ELANE gene on chromosome 19.
| author = [[Julia Skokowa]], [[Manuela Germeshausen]], [[Cornelia Zeidler]] & [[Karl Welte]]
*Patients present with cyclic neutropenia starting in childhood with a cycle of approximately 21 days. Recurrent infections with fever are also common features.<ref>{{Cite journal
| title = Severe congenital neutropenia: inheritance and pathophysiology
| journal = [[Current opinion in hematology]]
| volume = 14
| issue = 1
| pages = 22–28
| year = 2007
| month = January
| pmid = 17133096
}}</ref>
*It is caused by a mutation in the ELANE gene on [[chromosome 19]].
*Patients present with [[cyclic neutropenia]] starting in childhood with a cycle of approximately 21 days. Recurrent [[infections]] with [[fever]] are also common features.<ref>{{Cite journal
  | author = [[H. W. Peng]], [[C. F. Chou]] & [[D. C. Liang]]
  | author = [[H. W. Peng]], [[C. F. Chou]] & [[D. C. Liang]]
  | title = Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome
  | title = Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome
Line 298: Line 342:
  | pmid = 10971405
  | pmid = 10971405
}}</ref>
}}</ref>
*The mainstay of treatment is giving granulocyte-colony stimulating factor (GCSF or CSF3)<ref>{{Cite journal
*The mainstay of treatment is giving [[granulocyte-colony stimulating factor]] (GCSF or CSF3)<ref>{{Cite journal
  | author = [[S. E. Palmer]], [[K. Stephens]] & [[D. C. Dale]]
  | author = [[S. E. Palmer]], [[K. Stephens]] & [[D. C. Dale]]
  | title = Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
  | title = Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
Line 311: Line 355:
}}</ref>
}}</ref>


==HAX1 deficiency (Kostmann Disease) (SCN3)==
==HAX1 deficiency (Kostmann Disease) (Severe Congenital Neutropenia 3)==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1.
| author = [[Manuela Germeshausen]], [[Magda Grudzien]], [[Cornelia Zeidler]], [[Hengameh Abdollahpour]], [[Sevgi Yetgin]], [[Nima Rezaei]], [[Matthias Ballmaier]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
*Patients present with recurrent bacterial infections and neurologic abnormalities like psychomotor retardation and seizures. Patients are also at increased risk of developing leukemia and myelodysplastic syndrome.<ref>{{Cite journal
| title = Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
| journal = [[Blood]]
| volume = 111
| issue = 10
| pages = 4954–4957
| year = 2008
| month = May
| doi = 10.1182/blood-2007-11-120667
| pmid = 18337561
}}</ref>
*HAX1 stands for HCLS1-associated protein X1.
*It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on [[chromosome 1]].
*Patients present with recurrent [[bacterial infections]] and [[neurologic]] abnormalities like psychomotor retardation and [[seizures]]. Patients are also at increased risk of developing [[leukemia]] and [[myelodysplastic syndrome]].<ref>{{Cite journal
  | author = [[Manuela Germeshausen]], [[Magda Grudzien]], [[Cornelia Zeidler]], [[Hengameh Abdollahpour]], [[Sevgi Yetgin]], [[Nima Rezaei]], [[Matthias Ballmaier]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | author = [[Manuela Germeshausen]], [[Magda Grudzien]], [[Cornelia Zeidler]], [[Hengameh Abdollahpour]], [[Sevgi Yetgin]], [[Nima Rezaei]], [[Matthias Ballmaier]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | title = Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
  | title = Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
Line 328: Line 384:


==GFI 1 deficiency==
==GFI 1 deficiency==
*Autosomal dominant (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.
*B and T cell lymphopenia is the major feature of this disease.
*GFI 1 stands for growth-factor independent 1.
*B and T cell [[lymphopenia]] is the major feature of this disease.


==X-linked neutropenia/myelodysplasia WAS GOF==
==X-linked neutropenia/myelodysplasia WAS GOF==
*X-linked recessive transmission.
*[[X-linked recessive]] transmission.<ref>{{Cite journal
*Patients present with myeloid maturation arrest and monocytopenia.
| author = [[K. Devriendt]], [[A. S. Kim]], [[G. Mathijs]], [[S. G. Frints]], [[M. Schwartz]], [[J. J. Van Den Oord]], [[G. E. Verhoef]], [[M. A. Boogaerts]], [[J. P. Fryns]], [[D. You]], [[M. K. Rosen]] & [[P. Vandenberghe]]
| title = Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
| journal = [[Nature genetics]]
| volume = 27
| issue = 3
| pages = 313–317
| year = 2001
| month = March
| doi = 10.1038/85886
| pmid = 11242115
}}</ref>
*Patients present with myeloid maturation arrest and [[monocytopenia]].


==G-CSF receptor deficiency==
==G-CSF (Growth-colony stimulating factor) receptor deficiency==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by a mutation in CSF3R gene on chromosome 1.
| author = [[Alexa Triot]], [[Paivi M. Jarvinen]], [[Juan I. Arostegui]], [[Dhaarini Murugan]], [[Naschla Kohistani]], [[Jose Luis Dapena Diaz]], [[Tomas Racek]], [[Jacek Puchalka]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Daniel Kotlarz]], [[Dietmar Pfeifer]], [[Cristina Diaz de Heredia Rubio]], [[Mehmet Akif Ozdemir]], [[Turkan Patiroglu]], [[Musa Karakukcu]], [[Jose Sanchez de Toledo Codina]], [[Jordi Yague]], [[Ivo P. Touw]], [[Ekrem Unal]] & [[Christoph Klein]]
| title = Inherited biallelic CSF3R mutations in severe congenital neutropenia
| journal = [[Blood]]
| volume = 123
| issue = 24
| pages = 3811–3817
| year = 2014
| month = June
| doi = 10.1182/blood-2013-11-535419
| pmid = 24753537
}}</ref>
*It is caused by a mutation in [[CSF3R]] gene on [[chromosome 1]].


==Neutropenia with combined immune deficiency==
==Neutropenia with combined immune deficiency==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by a mutation in MKL1 gene on chromosome 22.<ref>{{Cite journal
  | author = [[T. Nagase]], [[R. Kikuno]], [[K. I. Ishikawa]], [[M. Hirosawa]] & [[O. Ohara]]
  | author = [[T. Nagase]], [[R. Kikuno]], [[K. I. Ishikawa]], [[M. Hirosawa]] & [[O. Ohara]]
  | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro
  | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro
Line 352: Line 430:
  | pmid = 10718198
  | pmid = 10718198
}}</ref>
}}</ref>
*Patients present with lymphopenia and thrombocytopenia.
*It is caused by a mutation in [[MKL1]] gene on [[chromosome 22]].
*Patients present with [[lymphopenia]] and [[thrombocytopenia]].


==Cystic fibrosis==
==Cystic fibrosis==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance regulator gene (CFTR) on chromosome 7.
| author = [[C. U. LOWE]], [[C. D. MAY]] & [[S. C. REED]]
*Patients can have pancreatic insufficiency, lung infections and increased levels of sweat chloride.
| title = Fibrosis of the pancreas in infants and children; a statistical study of clinical and hereditary features
*For detailed information about cystic fibrosis, click here [[Cystic fibrosis]]
| journal = [[American journal of diseases of children (1911)]]
| volume = 78
| issue = 3
| pages = 349–374
| year = 1949
| month = September
| pmid = 18138931
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the [[Cystic fibrosis transmembrane conductance regulator|cystic fibrosis transmembrane conductance regulator gene]] ([[CFTR]]) on [[chromosome 7]].<ref>{{Cite journal
| author = [[A. M. Duncan]], [[M. Buchwald]] & [[L. C. Tsui]]
| title = In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus
| journal = [[Cytogenetics and cell genetics]]
| volume = 49
| issue = 4
| pages = 309–310
| year = 1988
| month =
| doi = 10.1159/000132684
| pmid = 3248389
}}</ref>
*Patients can have [[pancreatic insufficiency]], lung infections and increased levels of sweat chloride.  
For more information about [[cystic fibrosis]], [[Cystic fibrosis|click here.]]


==Papillion-Lefèvre==
==Papillion-Lefèvre==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.
*It is caused by homozygous or compound heterozygous mutation in the cathepsin C gene (CTSC) on chromosome 11.
*It is caused by homozygous or compound heterozygous mutation in the [[cathepsin C]] gene (CTSC) on [[chromosome 11]].<ref>{{Cite journal
*Patients present with palmoplantar keratoderma, periodontitis, and premature loss of dentition.<ref>{{Cite journal
| author = [[J. Fischer]], [[C. Blanchet-Bardon]], [[J. F. Prud'homme]], [[S. Pavek]], [[P. M. Steijlen]], [[L. Dubertret]] & [[J. Weissenbach]]
| title = Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region
| journal = [[European journal of human genetics : EJHG]]
| volume = 5
| issue = 3
| pages = 156–160
| year = 1997
| month = May-June
| pmid = 9272739
}}</ref>
*Patients present with [[palmoplantar keratoderma]], [[periodontitis]], and premature loss of dentition.<ref>{{Cite journal
  | author = [[C. Lefevre]], [[C. Blanchet-Bardon]], [[F. Jobard]], [[B. Bouadjar]], [[J. F. Stalder]], [[S. Cure]], [[A. Hoffmann]], [[J. F. Prud'Homme]] & [[J. Fischer]]
  | author = [[C. Lefevre]], [[C. Blanchet-Bardon]], [[F. Jobard]], [[B. Bouadjar]], [[J. F. Stalder]], [[S. Cure]], [[A. Hoffmann]], [[J. F. Prud'Homme]] & [[J. Fischer]]
  | title = Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome
  | title = Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome
Line 375: Line 485:
  | pmid = 11886537
  | pmid = 11886537
}}</ref>
}}</ref>
*Acitretin if started at a early age can help patients have normal adult dentition.<ref>{{Cite journal
*[[Acitretin]] if started at a early age can help patients have normal adult dentition.<ref>{{Cite journal
  | author = [[V. Nazzaro]], [[C. Blanchet-Bardon]], [[C. Mimoz]], [[J. Revuz]] & [[A. Puissant]]
  | author = [[V. Nazzaro]], [[C. Blanchet-Bardon]], [[C. Mimoz]], [[J. Revuz]] & [[A. Puissant]]
  | title = Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin
  | title = Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin
Line 389: Line 499:
==Localized juvenile periodontitis==
==Localized juvenile periodontitis==
*It is cause by a mutation in the FPR1 gene.
*It is cause by a mutation in the FPR1 gene.
*The fMLP receptor (FPR1) of phagocytic cells interacts with bacterial fMLP and mediates chemotaxis, degranulation, and superoxide production.


==B-actin==
==B-actin==
*It is cause by a mutation in the ACTB gene.
*It is cause by a mutation in the [[ACTB]] gene.
*Patients usually develop mental retardation.
*Patients usually develop mental retardation.


==Leukocyte adhesion deficiency==
==Leukocyte adhesion deficiency==
*Autosomal recessive transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It results from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule, which results in poor neutrophil chemotaxis and phagocytosis.
| author = [[C. A. Crowley]], [[J. T. Curnutte]], [[R. E. Rosin]], [[J. Andre-Schwartz]], [[J. I. Gallin]], [[M. Klempner]], [[R. Snyderman]], [[F. S. Southwick]], [[T. P. Stossel]] & [[B. M. Babior]]
*Patients develop recurrent infections, delay in umbilical cord seperation, and impaired pus formation.<ref>{{Cite journal
| title = An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein
| journal = [[The New England journal of medicine]]
| volume = 302
| issue = 21
| pages = 1163–1168
| year = 1980
| month = May
| doi = 10.1056/NEJM198005223022102
| pmid = 7366657
}}</ref>
*It results from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule located on chromosome 21, which results in poor [[neutrophil]] [[chemotaxis]] and [[phagocytosis]].
*Patients develop recurrent infections, delay in [[umbilical cord]] seperation, and impaired pus formation.<ref>{{Cite journal
  | author = [[A. R. Hayward]], [[B. A. Harvey]], [[J. Leonard]], [[M. C. Greenwood]], [[C. B. Wood]] & [[J. F. Soothill]]
  | author = [[A. R. Hayward]], [[B. A. Harvey]], [[J. Leonard]], [[M. C. Greenwood]], [[C. B. Wood]] & [[J. F. Soothill]]
  | title = Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility
  | title = Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility
Line 408: Line 530:
  | pmid = 86829
  | pmid = 86829
}}</ref>
}}</ref>
*The mainstay of treatment is HSCT and gene therapy.<ref>{{Cite journal
*The mainstay of treatment is [[HSCT]] and [[gene therapy]].<ref>{{Cite journal
  | author = [[A. Fischer]], [[C. Griscelli]], [[W. Friedrich]], [[B. Kubanek]], [[R. Levinsky]], [[G. Morgan]], [[J. Vossen]], [[G. Wagemaker]] & [[P. Landais]]
  | author = [[A. Fischer]], [[C. Griscelli]], [[W. Friedrich]], [[B. Kubanek]], [[R. Levinsky]], [[G. Morgan]], [[J. Vossen]], [[G. Wagemaker]] & [[P. Landais]]
  | title = Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985
  | title = Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985
Line 428: Line 550:
  | month = June
  | month = June
  | pmid = 1972597
  | pmid = 1972597
}}</ref>  
}}</ref>    
*For detailed information about leukocyte adhesion deficiency, click here [[leukocyte adhesion deficiency]]
For more information about [[leukocyte adhesion deficiency]], [[Leukocyte adhesion deficiency|click here]].


==GATA2 def (MonoMac syndrome)==
==GATA2 def (MonoMac syndrome)==
*Autosomal dominant (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
*This syndrome is characterized by decreased or absent circulating monocytes, dendritic cells, natural killer cells, and B cells. Patients are at increased risk of developing severe or recurrent nontuberculous mycobacterial (NTM) infections, although opportunistic fungal infections and disseminated human papillomavirus (HPV) infections also occur.<ref>{{Cite journal
  | author = [[Donald C. Vinh]], [[Smita Y. Patel]], [[Gulbu Uzel]], [[Victoria L. Anderson]], [[Alexandra F. Freeman]], [[Kenneth N. Olivier]], [[Christine Spalding]], [[Stephen Hughes]], [[Stefania Pittaluga]], [[Mark Raffeld]], [[Lynn R. Sorbara]], [[Houda Z. Elloumi]], [[Douglas B. Kuhns]], [[Maria L. Turner]], [[Edward W. Cowen]], [[Danielle Fink]], [[Debra Long-Priel]], [[Amy P. Hsu]], [[Li Ding]], [[Michelle L. Paulson]], [[Adeline R. Whitney]], [[Elizabeth P. Sampaio]], [[David M. Frucht]], [[Frank R. DeLeo]] & [[Steven M. Holland]]
  | author = [[Donald C. Vinh]], [[Smita Y. Patel]], [[Gulbu Uzel]], [[Victoria L. Anderson]], [[Alexandra F. Freeman]], [[Kenneth N. Olivier]], [[Christine Spalding]], [[Stephen Hughes]], [[Stefania Pittaluga]], [[Mark Raffeld]], [[Lynn R. Sorbara]], [[Houda Z. Elloumi]], [[Douglas B. Kuhns]], [[Maria L. Turner]], [[Edward W. Cowen]], [[Danielle Fink]], [[Debra Long-Priel]], [[Amy P. Hsu]], [[Li Ding]], [[Michelle L. Paulson]], [[Adeline R. Whitney]], [[Elizabeth P. Sampaio]], [[David M. Frucht]], [[Frank R. DeLeo]] & [[Steven M. Holland]]
  | title = Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
  | title = Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
Line 444: Line 565:
  | doi = 10.1182/blood-2009-03-208629
  | doi = 10.1182/blood-2009-03-208629
  | pmid = 20040766
  | pmid = 20040766
}}</ref><ref>{{Cite journal
}}</ref>
*GATA2 stands for GATA-binding protein 2.
*This syndrome is characterized by decreased or absent circulating [[monocytes]], [[Dendritic cells|dendritic cells,]] [[natural killer cells]], and [[B cells]]. Patients are at increased risk of developing severe or recurrent non-tuberculous [[mycobacterial]] (NTM) infections, although [[Opportunistic infection|opportunistic]] [[fungal infections]] and disseminated [[human papilloma virus]] [[HPV|(HPV]]) infections also occur.<ref>{{Cite journal
  | author = [[Venetia Bigley]], [[Muzlifah Haniffa]], [[Sergei Doulatov]], [[Xiao-Nong Wang]], [[Rachel Dickinson]], [[Naomi McGovern]], [[Laura Jardine]], [[Sarah Pagan]], [[Ian Dimmick]], [[Ignatius Chua]], [[Jonathan Wallis]], [[Jim Lordan]], [[Cliff Morgan]], [[Dinakantha S. Kumararatne]], [[Rainer Doffinger]], [[Mirjam van der Burg]], [[Jacques van Dongen]], [[Andrew Cant]], [[John E. Dick]], [[Sophie Hambleton]] & [[Matthew Collin]]
  | author = [[Venetia Bigley]], [[Muzlifah Haniffa]], [[Sergei Doulatov]], [[Xiao-Nong Wang]], [[Rachel Dickinson]], [[Naomi McGovern]], [[Laura Jardine]], [[Sarah Pagan]], [[Ian Dimmick]], [[Ignatius Chua]], [[Jonathan Wallis]], [[Jim Lordan]], [[Cliff Morgan]], [[Dinakantha S. Kumararatne]], [[Rainer Doffinger]], [[Mirjam van der Burg]], [[Jacques van Dongen]], [[Andrew Cant]], [[John E. Dick]], [[Sophie Hambleton]] & [[Matthew Collin]]
  | title = The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
  | title = The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
Line 456: Line 579:
  | pmid = 21242295
  | pmid = 21242295
}}</ref>
}}</ref>
*Bone marrow transplant has shown success as the mode of treatment in some cases. <ref>{{Cite journal
*[[Bone marrow transplant]] has shown success as the mode of treatment in some cases. <ref>{{Cite journal
  | author = [[Jennifer Cuellar-Rodriguez]], [[Juan Gea-Banacloche]], [[Alexandra F. Freeman]], [[Amy P. Hsu]], [[Christa S. Zerbe]], [[Katherine R. Calvo]], [[Jennifer Wilder]], [[Roger Kurlander]], [[Kenneth N. Olivier]], [[Steven M. Holland]] & [[Dennis D. Hickstein]]
  | author = [[Jennifer Cuellar-Rodriguez]], [[Juan Gea-Banacloche]], [[Alexandra F. Freeman]], [[Amy P. Hsu]], [[Christa S. Zerbe]], [[Katherine R. Calvo]], [[Jennifer Wilder]], [[Roger Kurlander]], [[Kenneth N. Olivier]], [[Steven M. Holland]] & [[Dennis D. Hickstein]]
  | title = Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency
  | title = Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency
Line 470: Line 593:
      
      
==Specific granule deficiency==
==Specific granule deficiency==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is cause by homozygous mutation in the CEBPE gene on chromosome 14.
*Neutrophils of these patients display atypical bilobed nuclei.<ref>{{Cite journal
  | author = [[A. F. Gombart]], [[M. Shiohara]], [[S. H. Kwok]], [[K. Agematsu]], [[A. Komiyama]] & [[H. P. Koeffler]]
  | author = [[A. F. Gombart]], [[M. Shiohara]], [[S. H. Kwok]], [[K. Agematsu]], [[A. Komiyama]] & [[H. P. Koeffler]]
  | title = Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon
  | title = Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon
Line 483: Line 604:
  | pmid = 11313242
  | pmid = 11313242
}}</ref>
}}</ref>
*It is cause by homozygous mutation in the [[CEBPE]] gene on [[chromosome 14]].
*[[Neutrophils]] of these patients display atypical bilobed nuclei.


==Pulmonary alveolar proteinosis==
==Pulmonary alveolar proteinosis==
*Autosomal recessive (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous mutation in the CSF2RB gene on chromosome 22.
| author = [[T. Suzuki]], [[B. Maranda]], [[T. Sakagami]], [[P. Catellier]], [[C.-Y. Couture]], [[B. C. Carey]], [[C. Chalk]] & [[B. C. Trapnell]]
*It is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages causing respiratory failure.<ref>{{Cite journal
| title = Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations
| journal = [[The European respiratory journal]]
| volume = 37
| issue = 1
| pages = 201–204
| year = 2011
| month = January
| doi = 10.1183/09031936.00090610
| pmid = 21205713
}}</ref>
*It is caused by homozygous mutation in the [[CSF2RB]] gene on [[chromosome 22]].
*It is a rare [[lung disease]] characterized by the ineffective clearance of [[surfactant]] by alveolar [[macrophages]] causing [[respiratory failure]].<ref>{{Cite journal
  | author = [[Sara R. Greenhill]] & [[Darrell N. Kotton]]
  | author = [[Sara R. Greenhill]] & [[Darrell N. Kotton]]
  | title = Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction
  | title = Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction
Line 499: Line 633:
  | pmid = 19666756
  | pmid = 19666756
}}</ref>
}}</ref>
For more information about [[pulmonary alveolar proteinosis]], [[Pulmonary alveolar proteinosis|click here]].


==Chronic granulomatous disease (CGD)==
==Chronic granulomatous disease (CGD)==
*X-linked recessive transmission, however it can also have autosomal recessive transmission in few cases.
*[[X-linked recessive]] transmission. However, it can also have [[autosomal recessive]] transmission in a few cases.<ref>{{Cite journal
*It results from an inability of the phagocytes to kill microbes that they have already ingested.
| author = [[D. B. Windhorst]] & [[J. F. Soothill]]
*Patients present with pneumonia, osteomyelitis and recurrent abscesses of the skin and organs.<ref>{{Cite journal
| title = Inheritance of chronic granulomatous disease
| journal = [[Lancet (London, England)]]
| volume = 2
| issue = 7619
| pages = 543–544
| year = 1969
| month = September
| pmid = 4184856
}}</ref>
*It results from an inability of the [[phagocytes]] to kill [[microbes]] that they have already ingested.
*Patients present with [[pneumonia]], [[osteomyelitis]] and recurrent [[Skin abscess|abscesses of the skin]] and organs.<ref>{{Cite journal
  | author = [[R. B. Jr Johnston]]
  | author = [[R. B. Jr Johnston]]
  | title = Clinical aspects of chronic granulomatous disease
  | title = Clinical aspects of chronic granulomatous disease
Line 514: Line 659:
  | pmid = 11138621
  | pmid = 11138621
}}</ref>
}}</ref>
*For detailed information about Chronic granulomatous disease, click here [[Chronic granulomatous disease]]
For detailed information about [[chronic granulomatous disease]], [[Chronic granulomatous disease|click here]].


==Rac 2 deficiency==
==Rac 2 deficiency==
*It is caused by mutation in the RAC2 gene on chromosome 22.
*It is caused by mutation in the [[RAC2]] gene on [[chromosome 22]].
*Patients present with severe infections and impaired wound healing.<ref>{{Cite journal
*Rac 2 stands for RAS-Related C3 Botulinum Toxin Substrate 2.
*Patients present with severe [[Infection|infections]] and [[impaired wound healing]].<ref>{{Cite journal
  | author = [[D. R. Ambruso]], [[C. Knall]], [[A. N. Abell]], [[J. Panepinto]], [[A. Kurkchubasche]], [[G. Thurman]], [[C. Gonzalez-Aller]], [[A. Hiester]], [[M. deBoer]], [[R. J. Harbeck]], [[R. Oyer]], [[G. L. Johnson]] & [[D. Roos]]
  | author = [[D. R. Ambruso]], [[C. Knall]], [[A. N. Abell]], [[J. Panepinto]], [[A. Kurkchubasche]], [[G. Thurman]], [[C. Gonzalez-Aller]], [[A. Hiester]], [[M. deBoer]], [[R. J. Harbeck]], [[R. Oyer]], [[G. L. Johnson]] & [[D. Roos]]
  | title = Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
  | title = Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
Line 532: Line 678:


==Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1==
==Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1==
*X-linked dominant (XLD) transmission.
*[[X-linked dominant]] (XLD) transmission.<ref>{{Cite journal
*It is caused by mutation in the G6PD gene on chromosome X causing decreased G6PD enzyme levels.
| author = [[Lucio Luzzatto]] & [[Paolo Arese]]
*Patients typically present with acute hemolytic anemia and neonatal jaundice.
| title = Favism and Glucose-6-Phosphate Dehydrogenase Deficiency
*For detailed information about Glucose-6-phosphate dehydrogenase deficiency, click here [[Glucose-6-phosphate dehydrogenase deficiency]]
| journal = [[The New England journal of medicine]]
| volume = 378
| issue = 1
| pages = 60–71
| year = 2018
| month = January
| pmid = 29298156
}}</ref>
*It is caused by mutation in the [[G6PD]] gene on chromosome X causing decreased [[G6PD]] enzyme levels.
*Patients typically present with acute [[hemolytic anemia]] and [[neonatal jaundice]].
For detailed information about [[glucose-6-phosphate dehydrogenase deficiency]], [[Glucose-6-phosphate dehydrogenase deficiency|click here.]]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Medicine]]
[[Category:Immunology]]
[[Category:Hematology]]
[[Category:Genetics]]

Latest revision as of 17:27, 2 November 2018

Immunodeficiency Main Page

Home

Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Phagocytes are crucial to the immune system as they have the ability to ingest and kill foreign pathogens encountered by the body. In congenital phagocyte cell defects, the ability of phagocytes to kill foreign pathogens is impaired, leading to widespread infections. Congenital defects of phagocytes can be divided into two types including defects of phagocyte number and defects of phagocyte function.

Classification

 
 
Congenital defects of Phagocyte
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital defects of phagocyte number
 
Congenital defects of phagocyte function

Congeital Defects of Phagocyte Number

 
 
 
 
Congenital defects of phagocyte number
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Syndrome associated
 
 
 
No syndrome associated
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Shwachman-Diamond syndrome
 
 
 
 
Elastase deficiency (SCN1)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
G6PC3 deficiency (SCN4)
 
 
 
 
HAX1 deficiency (Kostmann Disease) (SCN3)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Glycogen storage disease type 1b
 
 
 
 
GFI 1 deficiency (SCN2)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cohen syndrome
 
 
 
 
X-linked neutropenia/myelodysplasia WAS GOF
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Barth Syndrome
 
 
 
 
G-CSF receptor deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Clericuzio syndrome (poikiloderma with neutropenia)
 
 
 
 
Neutropenia with combined immune deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
VPS45 deficiency(SCN5)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
P14/LAMTOR2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
JAGN1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
3-methylglutaconic aciduria
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SMARCD2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
WDR1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
HYOU1 deficiency
 
 
 
 

Congenital defects of phagocyte function

 
 
 
 
 
Congenital defects of phagocyte function
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Syndrome associated
 
 
 
 
 
No Syndrome associated;DHR assay(or NBT test)?
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cystic Fibrosis
 
 
Normal
 
 
Abnormal
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Papillion-Lefèvre
 
 
 
 
GATA2 def (MonoMac syndrome
 
 
 
Chronic granulomatous disease
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Localized juvenile periodontitis
 
 
 
 
Specific granule deficiency
 
 
 
Rac 2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
B-Actin
 
 
 
 
Pulmonary alveolar proteinosis
 
 
 
Glucose-6-phosphate dehydrogenase deficiency Class 1
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Leukocyte adhesion deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 


Shwachman-Diamond Syndrome

For more information on Shwachman-Diamond syndrome, click here.

G6PC3 deficiency

  • Autosomal recessive (AR) transmission.[5]
  • G6PC3 stands for glucose-6-phosphatase catalytic 3.
  • It is caused by homozygous mutation in the G6PC3 gene on chromosome 17.
  • Patients present with congenital neutropenia, cardiac abnormalities, inner ear deafness, neonatal sepsis and a prominent superficial venous pattern.

Glycogen storage disease type 1b

For more information on glycogen storage disease type 1b, click here.

Cohen Syndrome

For more information on Cohen Syndrome, click here.

Barth Syndrome

For more information on Barth Syndrome, click here.

Clericuzio syndrome (poikiloderma with neutropenia)

VPS45 deficiency

P14/LAMTOR2 deficiency

JAGN1 deficiency

  • JAGN stands for jagunal drosophila homolog of 1.
  • Autosomal recessive (AR) transmission.[13]
  • Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.

3-Methylglutaconic aciduria

For more information on 3-methylglutaconic aciduria, click here.

SMARCD2 deficiency

WDR1 deficiency

HYOU1 deficiency

Elastase deficiency (Severe Congenital Neutropenia 1)

HAX1 deficiency (Kostmann Disease) (Severe Congenital Neutropenia 3)

GFI 1 deficiency

  • Autosomal dominant (AD) transmission.
  • GFI 1 stands for growth-factor independent 1.
  • B and T cell lymphopenia is the major feature of this disease.

X-linked neutropenia/myelodysplasia WAS GOF

G-CSF (Growth-colony stimulating factor) receptor deficiency

Neutropenia with combined immune deficiency

Cystic fibrosis

For more information about cystic fibrosis, click here.

Papillion-Lefèvre

Localized juvenile periodontitis

  • It is cause by a mutation in the FPR1 gene.
  • The fMLP receptor (FPR1) of phagocytic cells interacts with bacterial fMLP and mediates chemotaxis, degranulation, and superoxide production.

B-actin

  • It is cause by a mutation in the ACTB gene.
  • Patients usually develop mental retardation.

Leukocyte adhesion deficiency

For more information about leukocyte adhesion deficiency, click here.

GATA2 def (MonoMac syndrome)

Specific granule deficiency

Pulmonary alveolar proteinosis

For more information about pulmonary alveolar proteinosis, click here.

Chronic granulomatous disease (CGD)

For detailed information about chronic granulomatous disease, click here.

Rac 2 deficiency

Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1

For detailed information about glucose-6-phosphate dehydrogenase deficiency, click here.

References

  1. ↑ H. Ginzberg, J. Shin, L. Ellis, S. Goobie, J. Morrison, M. Corey, P. R. Durie & J. M. Rommens (2000). "Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance". American journal of human genetics. 66 (4): 1413–1416. doi:10.1086/302856. PMID 10739765. Unknown parameter |month= ignored (help)
  2. ↑ Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM (April 2000). "Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance". Am. J. Hum. Genet. 66 (4): 1413–6. doi:10.1086/302856. PMC 1288206. PMID 10739765.
  3. ↑ Yigal Dror & Melvin H. Freedman (2002). "Shwachman-diamond syndrome". British journal of haematology. 118 (3): 701–713. PMID 12181037. Unknown parameter |month= ignored (help)
  4. ↑ N. B. Genieser, E. R. Halac, M. A. Greco & H. M. Richards (1982). "Shwachman-Bodian syndrome". Journal of computer assisted tomography. 6 (6): 1191–1192. PMID 7174939. Unknown parameter |month= ignored (help)
  5. ↑ Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, Alejandro A. Schaffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanne-Chantelot, Nima Rezaei, Kirsten Monkemoller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy-Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte & Christoph Klein (2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England journal of medicine. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMID 19118303. Unknown parameter |month= ignored (help)
  6. ↑ Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K (July 1998). "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11". Biochem. Biophys. Res. Commun. 248 (2): 426–31. doi:10.1006/bbrc.1998.8985. PMID 9675154.
  7. ↑ T. Kuzuya, A. Matsuda, S. Yoshida, K. Narisawa, K. Tada, T. Saito & M. Matsushita (1983). "An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies". The New England journal of medicine. 308 (10): 566–569. doi:10.1056/NEJM198303103081004. PMID 6298622. Unknown parameter |month= ignored (help)
  8. ↑ S. Kivitie-Kallio & R. Norio (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". American journal of medical genetics. 102 (2): 125–135. PMID 11477603. Unknown parameter |month= ignored (help)
  9. ↑ P. G. Barth, H. R. Scholte, J. A. Berden, J. M. Van der Klei-Van Moorsel, I. E. Luyt-Houwen, E. T. Van 't Veer-Korthof, J. J. Van der Harten & M. A. Sobotka-Plojhar (1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the neurological sciences. 62 (1–3): 327–355. PMID 6142097. Unknown parameter |month= ignored (help)
  10. ↑ R. P. Erickson (1999). "Southwestern Athabaskan (Navajo and Apache) genetic diseases". Genetics in medicine : official journal of the American College of Medical Genetics. 1 (4): 151–157. doi:10.1097/00125817-199905000-00007. PMID 11258351. Unknown parameter |month= ignored (help)
  11. ↑ Thierry Vilboux, Atar Lev, May Christine V. Malicdan, Amos J. Simon, Paivi Jarvinen, Tomas Racek, Jacek Puchalka, Raman Sood, Blake Carrington, Kevin Bishop, James Mullikin, Marjan Huizing, Ben Zion Garty, Eran Eyal, Baruch Wolach, Ronit Gavrieli, Amos Toren, Michalle Soudack, Osama M. Atawneh, Tatiana Babushkin, Ginette Schiby, Andrew Cullinane, Camila Avivi, Sylvie Polak-Charcon, Iris Barshack, Ninette Amariglio, Gideon Rechavi, Jutte van der Werff ten Bosch, Yair Anikster, Christoph Klein, William A. Gahl & Raz Somech (2013). "A congenital neutrophil defect syndrome associated with mutations in VPS45". The New England journal of medicine. 369 (1): 54–65. doi:10.1056/NEJMoa1301296. PMID 23738510. Unknown parameter |month= ignored (help)
  12. ↑ Georg Bohn, Anna Allroth, Gudrun Brandes, Jens Thiel, Erik Glocker, Alejandro A. Schaffer, Chozhavendan Rathinam, Nicole Taub, David Teis, Cornelia Zeidler, Ricardo A. Dewey, Robert Geffers, Jan Buer, Lukas A. Huber, Karl Welte, Bodo Grimbacher & Christoph Klein (2007). "A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14". Nature medicine. 13 (1): 38–45. doi:10.1038/nm1528. PMID 17195838. Unknown parameter |month= ignored (help)
  13. ↑ Kaan Boztug, Paivi M. Jarvinen, Elisabeth Salzer, Tomas Racek, Sebastian Monch, Wojciech Garncarz, E. Michael Gertz, Alejandro A. Schaffer, Aristotelis Antonopoulos, Stuart M. Haslam, Lena Schieck, Jacek Puchalka, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes W. Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Cecilia Dominguez Conde, Michael H. Albert, Karl Welte, Gudrun Brandes, Roya Sherkat, Jutte van der Werff Ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellanne-Chantelot, Giulio Superti-Furga, Josef M. Penninger, Keiryn L. Bennett, Julia von Blume, Anne Dell, Jean Donadieu & Christoph Klein (2014). "JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia". Nature genetics. 46 (9): 1021–1027. doi:10.1038/ng.3069. PMID 25129144. Unknown parameter |month= ignored (help)
  14. ↑ Saskia B. Wortmann, Szymon Zietkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Soren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lucke, Katrin Ounap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frederic M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A. A. P. Willemsen, Arjan P. M. de Brouwer, Holger Prokisch, Nicholas Katsanis & Ron A. Wevers (2015). "CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder". American journal of human genetics. 96 (2): 245–257. doi:10.1016/j.ajhg.2014.12.013. PMID 25597510. Unknown parameter |month= ignored (help)
  15. ↑ Maximilian Witzel, Daniel Petersheim, Yanxin Fan, Ehsan Bahrami, Tomas Racek, Meino Rohlfs, Jacek Puchalka, Christian Mertes, Julien Gagneur, Christoph Ziegenhain, Wolfgang Enard, Asbjorg Stray-Pedersen, Peter D. Arkwright, Miguel R. Abboud, Vahid Pazhakh, Graham J. Lieschke, Peter M. Krawitz, Maik Dahlhoff, Marlon R. Schneider, Eckhard Wolf, Hans-Peter Horny, Heinrich Schmidt, Alejandro A. Schaffer & Christoph Klein (2017). "Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes". Nature genetics. 49 (5): 742–752. doi:10.1038/ng.3833. PMID 28369036. Unknown parameter |month= ignored (help)
  16. ↑ H. Z. Ring, V. Vameghi-Meyers, W. Wang, G. R. Crabtree & U. Francke (1998). "Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome". Genomics. 51 (1): 140–143. doi:10.1006/geno.1998.5343. PMID 9693044. Unknown parameter |month= ignored (help)
  17. ↑ H. J. Adler, R. S. Winnicki, T. W. Gong & M. I. Lomax (1999). "A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein". Genomics. 56 (1): 59–69. doi:10.1006/geno.1998.5672. PMID 10036186. Unknown parameter |month= ignored (help)
  18. ↑ Douglas B. Kuhns, Danielle L. Fink, Uimook Choi, Colin Sweeney, Karen Lau, Debra Long Priel, Dara Riva, Laura Mendez, Gulbu Uzel, Alexandra F. Freeman, Kenneth N. Olivier, Victoria L. Anderson, Robin Currens, Vanessa Mackley, Allison Kang, Mehdi Al-Adeli, Emily Mace, Jordan S. Orange, Elizabeth Kang, Stephen J. Lockett, De Chen, Peter J. Steinbach, Amy P. Hsu, Kol A. Zarember, Harry L. Malech, John I. Gallin & Steven M. Holland (2016). "Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency". Blood. 128 (17): 2135–2143. doi:10.1182/blood-2016-03-706028. PMID 27557945. Unknown parameter |month= ignored (help)
  19. ↑ Julia Skokowa, Manuela Germeshausen, Cornelia Zeidler & Karl Welte (2007). "Severe congenital neutropenia: inheritance and pathophysiology". Current opinion in hematology. 14 (1): 22–28. PMID 17133096. Unknown parameter |month= ignored (help)
  20. ↑ H. W. Peng, C. F. Chou & D. C. Liang (2000). "Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome". British journal of haematology. 110 (2): 438–440. PMID 10971405. Unknown parameter |month= ignored (help)
  21. ↑ S. E. Palmer, K. Stephens & D. C. Dale (1996). "Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis". American journal of medical genetics. 66 (4): 413–422. doi:10.1002/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L. PMID 8989458. Unknown parameter |month= ignored (help)
  22. ↑ Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte & Christoph Klein (2008). "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations". Blood. 111 (10): 4954–4957. doi:10.1182/blood-2007-11-120667. PMID 18337561. Unknown parameter |month= ignored (help)
  23. ↑ Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte & Christoph Klein (2008). "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations". Blood. 111 (10): 4954–4957. doi:10.1182/blood-2007-11-120667. PMID 18337561. Unknown parameter |month= ignored (help)
  24. ↑ K. Devriendt, A. S. Kim, G. Mathijs, S. G. Frints, M. Schwartz, J. J. Van Den Oord, G. E. Verhoef, M. A. Boogaerts, J. P. Fryns, D. You, M. K. Rosen & P. Vandenberghe (2001). "Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia". Nature genetics. 27 (3): 313–317. doi:10.1038/85886. PMID 11242115. Unknown parameter |month= ignored (help)
  25. ↑ Alexa Triot, Paivi M. Jarvinen, Juan I. Arostegui, Dhaarini Murugan, Naschla Kohistani, Jose Luis Dapena Diaz, Tomas Racek, Jacek Puchalka, E. Michael Gertz, Alejandro A. Schaffer, Daniel Kotlarz, Dietmar Pfeifer, Cristina Diaz de Heredia Rubio, Mehmet Akif Ozdemir, Turkan Patiroglu, Musa Karakukcu, Jose Sanchez de Toledo Codina, Jordi Yague, Ivo P. Touw, Ekrem Unal & Christoph Klein (2014). "Inherited biallelic CSF3R mutations in severe congenital neutropenia". Blood. 123 (24): 3811–3817. doi:10.1182/blood-2013-11-535419. PMID 24753537. Unknown parameter |month= ignored (help)
  26. ↑ T. Nagase, R. Kikuno, K. I. Ishikawa, M. Hirosawa & O. Ohara (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA research : an international journal for rapid publication of reports on genes and genomes. 7 (1): 65–73. PMID 10718198. Unknown parameter |month= ignored (help)
  27. ↑ C. U. LOWE, C. D. MAY & S. C. REED (1949). "Fibrosis of the pancreas in infants and children; a statistical study of clinical and hereditary features". American journal of diseases of children (1911). 78 (3): 349–374. PMID 18138931. Unknown parameter |month= ignored (help)
  28. ↑ A. M. Duncan, M. Buchwald & L. C. Tsui (1988). "In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus". Cytogenetics and cell genetics. 49 (4): 309–310. doi:10.1159/000132684. PMID 3248389.
  29. ↑ J. Fischer, C. Blanchet-Bardon, J. F. Prud'homme, S. Pavek, P. M. Steijlen, L. Dubertret & J. Weissenbach (1997). "Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region". European journal of human genetics : EJHG. 5 (3): 156–160. PMID 9272739. Unknown parameter |month= ignored (help)
  30. ↑ C. Lefevre, C. Blanchet-Bardon, F. Jobard, B. Bouadjar, J. F. Stalder, S. Cure, A. Hoffmann, J. F. Prud'Homme & J. Fischer (2001). "Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome". The Journal of investigative dermatology. 117 (6): 1657–1661. doi:10.1046/j.0022-202x.2001.01595.x. PMID 11886537. Unknown parameter |month= ignored (help)
  31. ↑ V. Nazzaro, C. Blanchet-Bardon, C. Mimoz, J. Revuz & A. Puissant (1988). "Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin". Archives of dermatology. 124 (4): 533–539. PMID 2965550. Unknown parameter |month= ignored (help)
  32. ↑ C. A. Crowley, J. T. Curnutte, R. E. Rosin, J. Andre-Schwartz, J. I. Gallin, M. Klempner, R. Snyderman, F. S. Southwick, T. P. Stossel & B. M. Babior (1980). "An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein". The New England journal of medicine. 302 (21): 1163–1168. doi:10.1056/NEJM198005223022102. PMID 7366657. Unknown parameter |month= ignored (help)
  33. ↑ A. R. Hayward, B. A. Harvey, J. Leonard, M. C. Greenwood, C. B. Wood & J. F. Soothill (1979). "Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility". Lancet (London, England). 1 (8126): 1099–1101. PMID 86829. Unknown parameter |month= ignored (help)
  34. ↑ A. Fischer, C. Griscelli, W. Friedrich, B. Kubanek, R. Levinsky, G. Morgan, J. Vossen, G. Wagemaker & P. Landais (1986). "Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985". Lancet (London, England). 2 (8515): 1080–1084. PMID 2877234. Unknown parameter |month= ignored (help)
  35. ↑ J. M. Wilson, A. J. Ping, J. C. Krauss, L. Mayo-Bond, C. E. Rogers, D. C. Anderson & R. F. Todd (1990). "Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer". Science (New York, N.Y.). 248 (4961): 1413–1416. PMID 1972597. Unknown parameter |month= ignored (help)
  36. ↑ Donald C. Vinh, Smita Y. Patel, Gulbu Uzel, Victoria L. Anderson, Alexandra F. Freeman, Kenneth N. Olivier, Christine Spalding, Stephen Hughes, Stefania Pittaluga, Mark Raffeld, Lynn R. Sorbara, Houda Z. Elloumi, Douglas B. Kuhns, Maria L. Turner, Edward W. Cowen, Danielle Fink, Debra Long-Priel, Amy P. Hsu, Li Ding, Michelle L. Paulson, Adeline R. Whitney, Elizabeth P. Sampaio, David M. Frucht, Frank R. DeLeo & Steven M. Holland (2010). "Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia". Blood. 115 (8): 1519–1529. doi:10.1182/blood-2009-03-208629. PMID 20040766. Unknown parameter |month= ignored (help)
  37. ↑ Venetia Bigley, Muzlifah Haniffa, Sergei Doulatov, Xiao-Nong Wang, Rachel Dickinson, Naomi McGovern, Laura Jardine, Sarah Pagan, Ian Dimmick, Ignatius Chua, Jonathan Wallis, Jim Lordan, Cliff Morgan, Dinakantha S. Kumararatne, Rainer Doffinger, Mirjam van der Burg, Jacques van Dongen, Andrew Cant, John E. Dick, Sophie Hambleton & Matthew Collin (2011). "The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency". The Journal of experimental medicine. 208 (2): 227–234. doi:10.1084/jem.20101459. PMID 21242295. Unknown parameter |month= ignored (help)
  38. ↑ Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Alexandra F. Freeman, Amy P. Hsu, Christa S. Zerbe, Katherine R. Calvo, Jennifer Wilder, Roger Kurlander, Kenneth N. Olivier, Steven M. Holland & Dennis D. Hickstein (2011). "Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency". Blood. 118 (13): 3715–3720. doi:10.1182/blood-2011-06-365049. PMID 21816832. Unknown parameter |month= ignored (help)
  39. ↑ A. F. Gombart, M. Shiohara, S. H. Kwok, K. Agematsu, A. Komiyama & H. P. Koeffler (2001). "Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon". Blood. 97 (9): 2561–2567. PMID 11313242. Unknown parameter |month= ignored (help)
  40. ↑ T. Suzuki, B. Maranda, T. Sakagami, P. Catellier, C.-Y. Couture, B. C. Carey, C. Chalk & B. C. Trapnell (2011). "Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations". The European respiratory journal. 37 (1): 201–204. doi:10.1183/09031936.00090610. PMID 21205713. Unknown parameter |month= ignored (help)
  41. ↑ Sara R. Greenhill & Darrell N. Kotton (2009). "Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction". Chest. 136 (2): 571–577. doi:10.1378/chest.08-2943. PMID 19666756. Unknown parameter |month= ignored (help)
  42. ↑ D. B. Windhorst & J. F. Soothill (1969). "Inheritance of chronic granulomatous disease". Lancet (London, England). 2 (7619): 543–544. PMID 4184856. Unknown parameter |month= ignored (help)
  43. ↑ R. B. Jr Johnston (2001). "Clinical aspects of chronic granulomatous disease". Current opinion in hematology. 8 (1): 17–22. PMID 11138621. Unknown parameter |month= ignored (help)
  44. ↑ D. R. Ambruso, C. Knall, A. N. Abell, J. Panepinto, A. Kurkchubasche, G. Thurman, C. Gonzalez-Aller, A. Hiester, M. deBoer, R. J. Harbeck, R. Oyer, G. L. Johnson & D. Roos (2000). "Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation". Proceedings of the National Academy of Sciences of the United States of America. 97 (9): 4654–4659. doi:10.1073/pnas.080074897. PMID 10758162. Unknown parameter |month= ignored (help)
  45. ↑ Lucio Luzzatto & Paolo Arese (2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". The New England journal of medicine. 378 (1): 60–71. PMID 29298156. Unknown parameter |month= ignored (help)
Retrieved from "https://www.wikidoc.org/index.php?title=Congenital_defects_of_phagocytes&oldid=1501529"