Classification of Primary Immune Deficiency Diseases
Deficiencies of the Innate Immune System | |
| |
Deficiencies of the Adaptive Immune System | |
T lymphocytes | |
| SCIDs, DiGeorge syndrome Severe combined immunodeficiencies Hyper-IgE syndrome (autosomal dominant) DOK8 deficiency CD40 ligand deficiency Wiskott-Aldrich syndrome Ataxia-telangiectasia and other DNA repair deficiencies |
B lymphocytes | |
| XL and AR agammaglobulinemia Hyper-IgM syndrome CVID IgA deficiency |
Regulatory Defects | |
Innate immunity
Adaptive immunity | Autoinflammatory syndromes (outside the scope of this chapter) Severe colitis HLH ALPS Autoimmunity and inflammatory diseases (IPEX, APECED) |
Abbreviations: ALPS, autoimmune lymphoproliferation syndrome; APECED, autoimmune polyendocrinopathy candidiasis ectodermal dysplasia; AR, autosomal recessive; CGD, chronic granulomatous disease; CVID, common variable immunodeficiency; HLH, hemophagocytic lymphohistiocytosis; IPEX, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome; LAD, leukocyte adhesion deficiency; SCIDs, severe combined immune deficiencies; SCN, severe congenital neutropenia; XL, X-linked.