Immunodeficiency affecting cellular and humoral Immunity: Difference between revisions
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==γc (IL-2Rγ) Deficiency== | ==γc (IL-2Rγ) Deficiency== | ||
*X-linked transmission, presenting usually between ages of 3-6 months. | *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). | *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. | *Characterized by susceptibility to repeated bacterial, viral and fungal infections, lack of delayed hypersensitivity and failure to thrive.<ref>{{Cite journal | ||
*HSCT is the mainstay of treatment. | | author = [[W. H. HITZIG]] & [[H. WILLI]] | ||
| title = [Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")] | |||
| journal = [[Schweizerische medizinische Wochenschrift]] | |||
| volume = 91 | |||
| pages = 1625–1633 | |||
| year = 1961 | |||
| month = December | |||
| pmid = 13907792 | |||
}}</ref> | |||
*HSCT is the mainstay of treatment.<ref>{{Cite journal | |||
| author = [[Fred S. Rosen]] | |||
| title = Successful gene therapy for severe combined immunodeficiency | |||
| journal = [[The New England journal of medicine]] | |||
| volume = 346 | |||
| issue = 16 | |||
| pages = 1241–1243 | |||
| year = 2002 | |||
| month = April | |||
| doi = 10.1056/NEJM200204183461612 | |||
| pmid = 11961154 | |||
}}</ref> | |||
==References== | |||
Revision as of 19:33, 10 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
| 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]
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)