Congenital defects of phagocytes: Difference between revisions

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==Shwachman-Diamond Syndrome==
==Shwachman-Diamond Syndrome==
*Autosomal Recessive(AR) transmission.
*[[Autosomal recessive]] (AR) transmission.
*It is caused by compound heterozygous or homozygous mutations in the SBDS gene on chromosome 7.
*It is caused by compound heterozygous or homozygous mutations in the SBDS gene on [[chromosome 7]].
*Patients present with exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and pancytopenias.<ref>{{Cite journal
*Patients present with exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and [[Pancytopenia|pancytopenias]].
| author = [[Yigal Dror]] & [[Melvin H. Freedman]]
*CT scan can be useful in the diagnosis.
| title = Shwachman-diamond syndrome
| journal = [[British journal of haematology]]
| volume = 118
| issue = 3
| pages = 701–713
| year = 2002
| month = September
| pmid = 12181037
}}</ref>
*CT scan can be useful in the diagnosis.<ref>{{Cite journal
| author = [[N. B. Genieser]], [[E. R. Halac]], [[M. A. Greco]] & [[H. M. Richards]]
| title = Shwachman-Bodian syndrome
| journal = [[Journal of computer assisted tomography]]
| volume = 6
| issue = 6
| pages = 1191–1192
| year = 1982
| month = December
| pmid = 7174939
}}</ref>


==G6PC3 deficiency==
==G6PC3 deficiency==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*It is caused by homozygous mutation in the G6PC3 gene on chromosome 17.
*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
*Patients present with congenital neutropenia, cardiac abnormalities, inner ear deafness, neonatal sepsis and a prominent superficial venous pattern.
| 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
| journal = [[The New England journal of medicine]]
| volume = 360
| issue = 1
| pages = 32–43
| year = 2009
| month = January
| doi = 10.1056/NEJMoa0805051
| pmid = 19118303
}}</ref>


==Glycogen storage disease type 1b==
==Glycogen storage disease type 1b==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*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, hypertension, eruptive xanthoma and hyperlipidemia.
| 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
| journal = [[The New England journal of medicine]]
| volume = 308
| issue = 10
| pages = 566–569
| year = 1983
| month = March
| doi = 10.1056/NEJM198303103081004
| pmid = 6298622
}}</ref>


==Cohen Syndrome==
==Cohen Syndrome==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*It is caused by homozygous or compound heterozygous mutations in the COH1 gene on chromosome 8.
*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
*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.
| author = [[S. Kivitie-Kallio]] & [[R. Norio]]
| title = Cohen syndrome: essential features, natural history, and heterogeneity
| journal = [[American journal of medical genetics]]
| volume = 102
| issue = 2
| pages = 125–135
| year = 2001
| month = August
| pmid = 11477603
}}</ref>


==Barth Syndrome==
==Barth Syndrome==
*X-linked recessive(XLR) transmission.
*X-linked recessive(XLR) transmission.
*It is caused by mutation in the tafazzin gene (TAZ) on chromosome X.
*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
*Patients present with  dilated cardiomyopathy, a predominantly proximal skeletal myopathy, growth retardation, organic aciduria, and neutropenia.
| 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
| journal = [[Journal of the neurological sciences]]
| volume = 62
| issue = 1-3
| pages = 327–355
| year = 1983
| month = December
| pmid = 6142097
}}</ref>


==Clericuzio syndrome (poikiloderma with neutropenia)==
==Clericuzio syndrome (poikiloderma with neutropenia)==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*It is caused by homozygous or compound heterozygous mutation in the USB1 gene on chromosome 16.
*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
*Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. Neutropenia may also be present.
| author = [[R. P. Erickson]]
| title = Southwestern Athabaskan (Navajo and Apache) genetic diseases
| journal = [[Genetics in medicine : official journal of the American College of Medical Genetics]]
| volume = 1
| issue = 4
| pages = 151–157
| year = 1999
| month = May-June
| doi = 10.1097/00125817-199905000-00007
| pmid = 11258351
}}</ref>


==VPS45 deficiency (SCN5)==
==VPS45 deficiency (SCN5)==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*It is caused by homozygous mutation in the VPS45 gene on chromosome 1.
*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.<ref>{{Cite journal
*Patients present in childhood with poor weight gain, hepatosplenomegaly, severe infections, hypergammaglobulinemia, nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.
| 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
| journal = [[The New England journal of medicine]]
| volume = 369
| issue = 1
| pages = 54–65
| year = 2013
| month = July
| doi = 10.1056/NEJMoa1301296
| pmid = 23738510
}}</ref>


==P14/LAMTOR2 deficiency==
==P14/LAMTOR2 deficiency==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*Patients present with short stature, hypopigmeted skin, coarse facial features and recurrent bronchopulmonary infections.<ref>{{Cite journal
*Patients present with short stature, hypopigmeted skin, coarse facial features and recurrent bronchopulmonary infections.
| 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
| journal = [[Nature medicine]]
| volume = 13
| issue = 1
| pages = 38–45
| year = 2007
| month = January
| doi = 10.1038/nm1528
| pmid = 17195838
}}</ref>
      
      
==JAGN1 deficiency==
==JAGN1 deficiency==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.<ref>{{Cite journal
*Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.
| 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
| journal = [[Nature genetics]]
| volume = 46
| issue = 9
| pages = 1021–1027
| year = 2014
| month = September
| doi = 10.1038/ng.3069
| pmid = 25129144
}}</ref>


==3-Methylglutaconic aciduria==
==3-Methylglutaconic aciduria==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*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.  
*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
*Patients present with delayed psychomotor development, congenital neutropenia, brain atrophy, microcephaly, movement disorders and cataracts.
| 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
| journal = [[American journal of human genetics]]
| volume = 96
| issue = 2
| pages = 245–257
| year = 2015
| month = February
| doi = 10.1016/j.ajhg.2014.12.013
| pmid = 25597510
}}</ref>
          
          
==SMARCD2 deficiency==
==SMARCD2 deficiency==
*Autosomal recessive(AR) transmission.
*Autosomal recessive(AR) transmission.
*It is caused by a mutation in the SMARCD2 gene on chromosome 17.<ref>{{Cite journal
*It is caused by a mutation in the SMARCD2 gene on chromosome 17.
| 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
| journal = [[Genomics]]
| volume = 51
| issue = 1
| pages = 140–143
| year = 1998
| month = July
| doi = 10.1006/geno.1998.5343
| pmid = 9693044
}}</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
*It is caused by mutation in the WDR1 gene on chromosome 4.
| author = [[H. J. Adler]], [[R. S. Winnicki]], [[T. W. Gong]] & [[M. I. Lomax]]
*Patients present with  recurrent infections, mild neutropenia, impaired wound healing and severe stomatitis with oral stenosis.
| title = A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein
| journal = [[Genomics]]
| volume = 56
| issue = 1
| pages = 59–69
| year = 1999
| month = February
| doi = 10.1006/geno.1998.5672
| pmid = 10036186
}}</ref>
*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]]
| title = Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency
| journal = [[Blood]]
| volume = 128
| issue = 17
| pages = 2135–2143
| year = 2016
| month = October
| doi = 10.1182/blood-2016-03-706028
| pmid = 27557945
}}</ref>
      
      
==HYOU1 deficiency==
==HYOU1 deficiency==
Line 287: Line 137:
*Autosomal dominant (AD) transmission.
*Autosomal dominant (AD) transmission.
*It is caused by a mutation in the ELANE gene on chromosome 19.
*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
*Patients present with  cyclic neutropenia starting in childhood with a cycle of approximately 21 days. Recurrent infections with fever are also common features.
| author = [[H. W. Peng]], [[C. F. Chou]] & [[D. C. Liang]]
*The mainstay of treatment is giving granulocyte-colony stimulating factor (GCSF or CSF3)
| title = Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome
| journal = [[British journal of haematology]]
| volume = 110
| issue = 2
| pages = 438–440
| year = 2000
| month = August
| pmid = 10971405
}}</ref>
*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]]
| title = Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
| journal = [[American journal of medical genetics]]
| volume = 66
| issue = 4
| pages = 413–422
| year = 1996
| month = December
| doi = 10.1002/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L
| pmid = 8989458
}}</ref>


==HAX1 deficiency (Kostmann Disease) (SCN3)==
==HAX1 deficiency (Kostmann Disease) (SCN3)==
*Autosomal recessive (AR) transmission.
*Autosomal recessive (AR) transmission.
*It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1.
*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
*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.
| 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
| journal = [[Blood]]
| volume = 111
| issue = 10
| pages = 4954–4957
| year = 2008
| month = May
| doi = 10.1182/blood-2007-11-120667
| pmid = 18337561
}}</ref>


==GFI 1 deficiency==
==GFI 1 deficiency==
Line 341: Line 159:
==Neutropenia with combined immune deficiency==
==Neutropenia with combined immune deficiency==
*Autosomal recessive (AR) transmission.
*Autosomal recessive (AR) transmission.
*It is caused by a mutation in MKL1 gene on chromosome 22.<ref>{{Cite journal
*It is caused by a mutation in MKL1 gene on chromosome 22.
| 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
| journal = [[DNA research : an international journal for rapid publication of reports on genes and genomes]]
| volume = 7
| issue = 1
| pages = 65–73
| year = 2000
| month = February
| pmid = 10718198
}}</ref>
*Patients present with lymphopenia and thrombocytopenia.
*Patients present with lymphopenia and thrombocytopenia.


Line 363: Line 171:
*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.
*Patients present with palmoplantar keratoderma, periodontitis, and premature loss of dentition.<ref>{{Cite journal
*Patients present with palmoplantar keratoderma, periodontitis, and premature loss of dentition.
| author = [[C. Lefevre]], [[C. Blanchet-Bardon]], [[F. Jobard]], [[B. Bouadjar]], [[J. F. Stalder]], [[S. Cure]], [[A. Hoffmann]], [[J. F. Prud'Homme]] & [[J. Fischer]]
*Acitretin if started at a early age can help patients have normal adult dentition.
| title = Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome
| journal = [[The Journal of investigative dermatology]]
| volume = 117
| issue = 6
| pages = 1657–1661
| year = 2001
| month = December
| doi = 10.1046/j.0022-202x.2001.01595.x
| pmid = 11886537
}}</ref>
*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]]
| title = Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin
| journal = [[Archives of dermatology]]
| volume = 124
| issue = 4
| pages = 533–539
| year = 1988
| month = April
| pmid = 2965550
}}</ref>


==Localized juvenile periodontitis==
==Localized juvenile periodontitis==
Line 397: Line 184:
*Autosomal recessive transmission.
*Autosomal recessive transmission.
*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.
*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.
*Patients develop recurrent infections, delay in umbilical cord seperation, and impaired pus formation.<ref>{{Cite journal
*Patients develop recurrent infections, delay in umbilical cord seperation, and impaired pus formation.
| author = [[A. R. Hayward]], [[B. A. Harvey]], [[J. Leonard]], [[M. C. Greenwood]], [[C. B. Wood]] & [[J. F. Soothill]]
*The mainstay of treatment is HSCT and gene therapy.     
| title = Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility
| journal = [[Lancet (London, England)]]
| volume = 1
| issue = 8126
| pages = 1099–1101
| year = 1979
| month = May
| pmid = 86829
}}</ref>
*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]]
| title = Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985
| journal = [[Lancet (London, England)]]
| volume = 2
| issue = 8515
| pages = 1080–1084
| year = 1986
| month = November
| pmid = 2877234
}}</ref><ref>{{Cite journal
| author = [[J. M. Wilson]], [[A. J. Ping]], [[J. C. Krauss]], [[L. Mayo-Bond]], [[C. E. Rogers]], [[D. C. Anderson]] & [[R. F. Todd]]
| title = Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer
| journal = [[Science (New York, N.Y.)]]
| volume = 248
| issue = 4961
| pages = 1413–1416
| year = 1990
| month = June
| pmid = 1972597
}}</ref>    
*For detailed information about leukocyte adhesion deficiency, click here [[leukocyte adhesion deficiency]]
*For detailed information about leukocyte adhesion deficiency, click here [[leukocyte adhesion deficiency]]


==GATA2 def (MonoMac syndrome)==
==GATA2 def (MonoMac syndrome)==
*Autosomal dominant (AD) transmission.
*Autosomal dominant (AD) transmission.
*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
*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.
| 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]]
*Bone marrow transplant has shown success as the mode of treatment in some cases.  
| title = Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
| journal = [[Blood]]
| volume = 115
| issue = 8
| pages = 1519–1529
| year = 2010
| month = February
| doi = 10.1182/blood-2009-03-208629
| pmid = 20040766
}}</ref><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]]
| title = The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
| journal = [[The Journal of experimental medicine]]
| volume = 208
| issue = 2
| pages = 227–234
| year = 2011
| month = February
| doi = 10.1084/jem.20101459
| pmid = 21242295
}}</ref>
*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]]
| title = Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency
| journal = [[Blood]]
| volume = 118
| issue = 13
| pages = 3715–3720
| year = 2011
| month = September
| doi = 10.1182/blood-2011-06-365049
| pmid = 21816832
}}</ref>
      
      
==Specific granule deficiency==
==Specific granule deficiency==
*Autosomal recessive (AR) transmission.
*Autosomal recessive (AR) transmission.
*It is cause by homozygous mutation in the CEBPE gene on chromosome 14.
*It is cause by homozygous mutation in the CEBPE gene on chromosome 14.
*Neutrophils of these patients display atypical bilobed nuclei.<ref>{{Cite journal
*Neutrophils of these patients display atypical bilobed nuclei.
| 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
| journal = [[Blood]]
| volume = 97
| issue = 9
| pages = 2561–2567
| year = 2001
| month = May
| pmid = 11313242
}}</ref>


==Pulmonary alveolar proteinosis==
==Pulmonary alveolar proteinosis==
*Autosomal recessive (AR) transmission.
*Autosomal recessive (AR) transmission.
*It is caused by homozygous mutation in the CSF2RB gene on chromosome 22.
*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
*It is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages causing respiratory failure.
| author = [[Sara R. Greenhill]] & [[Darrell N. Kotton]]
| title = Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction
| journal = [[Chest]]
| volume = 136
| issue = 2
| pages = 571–577
| year = 2009
| month = August
| doi = 10.1378/chest.08-2943
| pmid = 19666756
}}</ref>


==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 few cases.
*It results from an inability of the phagocytes to kill microbes that they have already ingested.
*It results from an inability of the phagocytes to kill microbes that they have already ingested.
*Patients present with pneumonia, osteomyelitis and recurrent abscesses of the skin and organs.<ref>{{Cite journal
*Patients present with pneumonia, osteomyelitis and recurrent abscesses of the skin and organs.
| author = [[R. B. Jr Johnston]]
| title = Clinical aspects of chronic granulomatous disease
| journal = [[Current opinion in hematology]]
| volume = 8
| issue = 1
| pages = 17–22
| year = 2001
| month = January
| pmid = 11138621
}}</ref>
*For detailed information about Chronic granulomatous disease, click here [[Chronic granulomatous disease]]
*For detailed information about Chronic granulomatous disease, click here [[Chronic granulomatous disease]]


==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
*Patients present with severe infections and impaired wound healing.
| 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
| journal = [[Proceedings of the National Academy of Sciences of the United States of America]]
| volume = 97
| issue = 9
| pages = 4654–4659
| year = 2000
| month = April
| doi = 10.1073/pnas.080074897
| pmid = 10758162
}}</ref>


==Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1==
==Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1==
Line 536: Line 218:
*Patients typically present with acute hemolytic anemia and neonatal jaundice.
*Patients typically present with acute hemolytic anemia and neonatal jaundice.
*For detailed information about Glucose-6-phosphate dehydrogenase deficiency, click here [[Glucose-6-phosphate dehydrogenase deficiency]]
*For detailed information about Glucose-6-phosphate dehydrogenase deficiency, click here [[Glucose-6-phosphate dehydrogenase deficiency]]




      
      
    
    




==References==
==References==
<references />

Revision as of 13:08, 29 October 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

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
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
methylglutacoic 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
 
 
 
CGD
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Localized juvenile periodontitis
 
 
 
 
Specific granule deficiency
 
 
 
Rac 2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
B-Actin
 
 
 
 
Pulmonary alveolar proteinosis
 
 
 
G6PD def Class 1
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Leukocyte adhesion deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 


Shwachman-Diamond Syndrome

  • Autosomal recessive (AR) transmission.
  • It is caused by compound heterozygous or homozygous mutations in the SBDS gene on chromosome 7.
  • Patients present with exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and pancytopenias.
  • CT scan can be useful in the diagnosis.

G6PC3 deficiency

  • Autosomal recessive(AR) transmission.
  • 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

  • Autosomal recessive(AR) transmission.
  • 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.

Cohen Syndrome

  • Autosomal recessive(AR) transmission.
  • 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.

Barth Syndrome

  • X-linked recessive(XLR) transmission.
  • 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.

Clericuzio syndrome (poikiloderma with neutropenia)

  • Autosomal recessive(AR) transmission.
  • 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.

VPS45 deficiency (SCN5)

  • Autosomal recessive(AR) transmission.
  • 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

  • Autosomal recessive(AR) transmission.
  • Patients present with short stature, hypopigmeted skin, coarse facial features and recurrent bronchopulmonary infections.

JAGN1 deficiency

  • Autosomal recessive(AR) transmission.
  • Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.

3-Methylglutaconic aciduria

  • Autosomal recessive(AR) transmission.
  • 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.

SMARCD2 deficiency

  • Autosomal recessive(AR) transmission.
  • It is caused by a mutation in the SMARCD2 gene on chromosome 17.
  • Patients present with myelodysplasia, bone defects and developmental abnormalities.

WDR1 deficiency

  • Autosomal recessive(AR) transmission.
  • It is caused by mutation in the WDR1 gene on chromosome 4.
  • Patients present with recurrent infections, mild neutropenia, impaired wound healing and severe stomatitis with oral stenosis.

HYOU1 deficiency

  • Autosomal recessive (AR) transmission.
  • It is caused by mutation in the HYOU1 gene on chromosome 11.
  • Patients present with hypoglycemia and infections.

Elastase deficiency (SCN1)

  • Autosomal dominant (AD) transmission.
  • 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.
  • The mainstay of treatment is giving granulocyte-colony stimulating factor (GCSF or CSF3)

HAX1 deficiency (Kostmann Disease) (SCN3)

  • Autosomal recessive (AR) transmission.
  • 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.

GFI 1 deficiency

  • Autosomal dominant (AD) transmission.
  • B and T cell lymphopenia is the major feature of this disease.

X-linked neutropenia/myelodysplasia WAS GOF

  • X-linked recessive transmission.
  • Patients present with myeloid maturation arrest and monocytopenia.

G-CSF receptor deficiency

  • Autosomal recessive (AR) transmission.
  • It is caused by a mutation in CSF3R gene on chromosome 1.

Neutropenia with combined immune deficiency

  • Autosomal recessive (AR) transmission.
  • It is caused by a mutation in MKL1 gene on chromosome 22.
  • Patients present with lymphopenia and thrombocytopenia.

Cystic fibrosis

  • Autosomal recessive (AR) transmission.
  • It is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance regulator gene (CFTR) on chromosome 7.
  • Patients can have pancreatic insufficiency, lung infections and increased levels of sweat chloride.
  • For detailed information about cystic fibrosis, click here Cystic fibrosis

Papillion-Lefèvre

  • Autosomal recessive (AR) transmission.
  • It is caused by homozygous or compound heterozygous mutation in the cathepsin C gene (CTSC) on chromosome 11.
  • Patients present with palmoplantar keratoderma, periodontitis, and premature loss of dentition.
  • Acitretin if started at a early age can help patients have normal adult dentition.

Localized juvenile periodontitis

  • It is cause by a mutation in the FPR1 gene.

B-actin

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

Leukocyte adhesion deficiency

  • Autosomal recessive transmission.
  • 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.
  • Patients develop recurrent infections, delay in umbilical cord seperation, and impaired pus formation.
  • The mainstay of treatment is HSCT and gene therapy.
  • For detailed information about leukocyte adhesion deficiency, click here leukocyte adhesion deficiency

GATA2 def (MonoMac syndrome)

  • Autosomal dominant (AD) transmission.
  • 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.
  • Bone marrow transplant has shown success as the mode of treatment in some cases.

Specific granule deficiency

  • Autosomal recessive (AR) transmission.
  • It is cause by homozygous mutation in the CEBPE gene on chromosome 14.
  • Neutrophils of these patients display atypical bilobed nuclei.

Pulmonary alveolar proteinosis

  • Autosomal recessive (AR) transmission.
  • 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.

Chronic granulomatous disease (CGD)

  • X-linked recessive transmission, however it can also have autosomal recessive transmission in few cases.
  • It results from an inability of the phagocytes to kill microbes that they have already ingested.
  • Patients present with pneumonia, osteomyelitis and recurrent abscesses of the skin and organs.
  • For detailed information about Chronic granulomatous disease, click here Chronic granulomatous disease

Rac 2 deficiency

  • It is caused by mutation in the RAC2 gene on chromosome 22.
  • Patients present with severe infections and impaired wound healing.

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

  • X-linked dominant (XLD) transmission.
  • 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, click here Glucose-6-phosphate dehydrogenase deficiency




References

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