Congenital defects of phagocytes: Difference between revisions
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*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, | *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 139: | Line 139: | ||
| pmid = 11477603 | | pmid = 11477603 | ||
}}</ref> | }}</ref> | ||
==References== | ==References== | ||
Revision as of 18:48, 12 October 2018
|
Immunodeficiency Main Page |
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.[1]
- CT scan can be useful in the diagnosis.[2]
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.[3]
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.[4]
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.[5]
References
- ↑ Yigal Dror & Melvin H. Freedman (2002). "Shwachman-diamond syndrome". British journal of haematology. 118 (3): 701–713. PMID 12181037. Unknown parameter
|month=ignored (help) - ↑ 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) - ↑ 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) - ↑ 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) - ↑ 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)