Immunodeficiency affecting cellular and humoral Immunity: Difference between revisions
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==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. | |||
*HSCT is the mainstay of treatment. | |||
Revision as of 19:21, 10 October 2018
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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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
References
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.
- HSCT is the mainstay of treatment.