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
Severe combined immunodeficiency 51
Non-SCID combined immunodeficiency 9
MHC class I deficiency 3
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 2
Combined immunodeficiency due to CRAC channel dysfunction 2
Combined immunodeficiency syndrome 2
Ataxia telangiectasia 1
IRF4-related combined immunodeficiency
NFATC1-related combined immunodeficiency
POLD3-related combined immunodeficiency
Wiskott-Aldrich syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Autoinflammatory disease, familial, Behcet-like-3
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CTPS1 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to POLE2 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TBX1 deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to dimerization defective IKAROS mutation
Combined immunodeficiency due to moesin deficiency
Combined immunodeficiency with low Ig due to BCL10 deficiency
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
Early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation
Late-onset combined immunodeficiency due to ICOSL deficiency

Rare disease

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