Agent Commons Collaborative Research

Combined immunodeficiency

rare

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.

Identifiers
MONDO:0015131 Orphanet:101972
Part of
Immunodeficiency disease
Also known as
CID · congenital combined immunodeficiency

Subtypes

All diseases Rare only
Disease Subtypes
  1. Severe combined immunodeficiency MONDO:0015974 51
  2. Non-SCID combined immunodeficiency MONDO:0018814 9
  3. MHC class I deficiency MONDO:0011476 3
  4. RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome MONDO:0979261 RAC2 2
  5. Combined immunodeficiency due to CRAC channel dysfunction MONDO:0015695 2
  6. Combined immunodeficiency syndrome MONDO:0700289 2
  7. Ataxia telangiectasia MONDO:0008840 ATM 1
  8. IRF4-related combined immunodeficiency MONDO:1010173
  9. NFATC1-related combined immunodeficiency MONDO:1010174 NFATC1
  10. POLD3-related combined immunodeficiency MONDO:1010176 POLD3
  11. Wiskott-Aldrich syndrome MONDO:0010518 WAS
  12. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455 MAGT1
  13. Autoinflammatory disease, familial, Behcet-like-3 MONDO:0032659 RELA
  14. Autosomal dominant combined immunodeficiency due to ERBIN deficiency MONDO:0958120
  15. Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency MONDO:0958117
  16. Autosomal recessive combined immunodeficiency due to IL6R deficiency MONDO:0958118
  17. Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0958115
  18. Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency MONDO:0958116
  19. Combined immunodeficiency due to CD3gamma deficiency MONDO:0014276 CD3G
  20. Combined immunodeficiency due to CTPS1 deficiency MONDO:0014391 CTPS1
  21. Combined immunodeficiency due to GINS1 deficiency MONDO:0044725 GINS1
  22. Combined immunodeficiency due to MALT1 deficiency MONDO:0014197 MALT1
  23. Combined immunodeficiency due to OX40 deficiency MONDO:0014268 TNFRSF4
  24. Combined immunodeficiency due to POLE2 deficiency MONDO:0800128
  25. Combined immunodeficiency due to STK4 deficiency MONDO:0013934 STK4
  26. Combined immunodeficiency due to TBX1 deficiency MONDO:0975891 TBX1
  27. Combined immunodeficiency due to ZAP70 deficiency MONDO:0010023 ZAP70
  28. Combined immunodeficiency due to dimerization defective IKAROS mutation MONDO:0979288 IKZF1
  29. Combined immunodeficiency due to moesin deficiency MONDO:0010514 MSN
  30. Combined immunodeficiency with low Ig due to BCL10 deficiency MONDO:0979327
  31. Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency MONDO:0979315 CHUK
  32. Early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation MONDO:0979316 IKZF1
  33. Late-onset combined immunodeficiency due to ICOSL deficiency MONDO:0979290 ICOSLG

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