Immunodeficiency affecting cellular and humoral Immunity
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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
| Immunodeficiency affecting cellular and humoral immunity | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| CD19 NL: SCID T-ve B+ve | CD19 ↓: SCID T-ve B-ve | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID T-ve B+ve NK-ve | SCID T-ve B+ve NK+ve | SCID T-ve B-ve NK-ve | SCID T-ve B-ve NK+ve | ||||||||||||||||||||||||||||||||||||||||||||||||||
| yc deficiency | IL7Ra . | ADA def | Microcephaly present | Microcephaly absent | |||||||||||||||||||||||||||||||||||||||||||||||||
| JAK-3 def | CD3D, CD3E, CD247 | Reticular dysgenesis | DNA Ligase IV def | RAG1/2 def | |||||||||||||||||||||||||||||||||||||||||||||||||
| CD45 def | XLF def | DCLRE1C def | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Coronin-1A def | DNA PKcs def | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Winged helix def | |||||||||||||||||||||||||||||||||||||||||||||||||||||
γc (IL-2Rγ) deficiency
- X-linked transmission, presenting usually between ages of 3-6 months.
- It is caused by a mutation in the gene encoding the gamma sub-unit of interleukin-2 receptor (IL2RG).
- Characterized by susceptibility to repeated bacterial, viral and fungal infections, lack of delayed hypersensitivity and failure to thrive.[1]
- HSCT is the mainstay of treatment.[2]
JAK-3 deficiency
- Autosomal recessive(AR) transmission
- It is caused by homozygous or compound heterozygous mutation in the Janus kinase-3 gene on chromosome 19p13.
- Similar presentation to X-linked SCID.[3]
- HSCT is the mainstay of treatment.[4]
IL7a
- Autosomal recessive transmission(AR)
- It is caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene on chromosome 5p13.[5]
- Similar presemtation to X-linked SCID[6]
References
- ↑ W. H. HITZIG & H. WILLI (1961). "[Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")]". Schweizerische medizinische Wochenschrift. 91: 1625–1633. PMID 13907792. Unknown parameter
|month=ignored (help) - ↑ Fred S. Rosen (2002). "Successful gene therapy for severe combined immunodeficiency". The New England journal of medicine. 346 (16): 1241–1243. doi:10.1056/NEJM200204183461612. PMID 11961154. Unknown parameter
|month=ignored (help) - ↑ F. Candotti, S. A. Oakes, J. A. Johnston, S. Giliani, R. F. Schumacher, P. Mella, M. Fiorini, A. G. Ugazio, R. Badolato, L. D. Notarangelo, F. Bozzi, P. Macchi, D. Strina, P. Vezzoni, R. M. Blaese, J. J. O'Shea & A. Villa (1997). "Structural and functional basis for JAK3-deficient severe combined immunodeficiency". Blood. 90 (10): 3996–4003. PMID 9354668. Unknown parameter
|month=ignored (help) - ↑ Joseph L. Roberts, Andrea Lengi, Stephanie M. Brown, Min Chen, Yong-Jie Zhou, John J. O'Shea & Rebecca H. Buckley (2004). "Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation". Blood. 103 (6): 2009–2018. doi:10.1182/blood-2003-06-2104. PMID 14615376. Unknown parameter
|month=ignored (help) - ↑ A. Puel, S. F. Ziegler, R. H. Buckley & W. J. Leonard (1998). "Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency". Nature genetics. 20 (4): 394–397. doi:10.1038/3877. PMID 9843216. Unknown parameter
|month=ignored (help) - ↑ C. M. Roifman, J. Zhang, D. Chitayat & N. Sharfe (2000). "A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency". Blood. 96 (8): 2803–2807. PMID 11023514. Unknown parameter
|month=ignored (help)