Table 2

Overview of well characterised human primary immunodeficiencies (PIDs)

Representative diseasesEstimated prevalenceGenetic defect(s)
A. Predominantly antibody deficiencies (∼65% of all PIDs)
X-linked agammaglobulinaemia (Bruton’s disease)1:70000 to 1:400000BTK
Autosomal recessive agammaglobulinaemiaRareμ heavy chain (IGHM), Igα (CD79A), Igβ (CD79B), λ5 (IGLL1), BLNK
Common variable immunodeficiency (CVID)1:25000 to 1:50000∼15% of patients have variants in ICOS, TACI, BAFFR or Msh5
Selective IgA deficiency1:500 (majority are asymptomatic)Unknown
IgG subclass deficiencyUncertain as most patients are asymptomaticUnknown
B. Combined T and B cell (∼15% of all PIDs)
Severe combined immunodeficiency (SCID)1:65000IL2RG, JAK3, IL7RA, ADA, RAG1, RAG2 and several others
Omenn syndromeRareRAG1, RAG2, Artemis, IL7RA
C. Phagocytic defects (∼10% of all PIDs)
Chronic granulomatous disease1:200000CYBB, CYBA, NCF1, NCF2
Severe congenital neutropenia1:300000ELA2, GF11, G-CSF3R, HAX1 (Kostmann syndrome)
Cyclic neutropenia1:100000 to 1:1000000ELA2
D. Other cellular immunodeficiencies (∼5–10% of all PIDs)
Wiskott–Aldrich syndrome1:100000 to 1:1000000WASP
DiGeorge syndrome (chromosome 22q11.2 deletion syndrome)1:4000Hemizygous deletions of chromosome 22q11.2
Hyper IgE syndrome1:100000STAT3 (in autosomal dominant form)
Ataxia–telangiectasia1:250000ATM
  • The table outlines well characterised human PIDs together with estimates of disease prevalence and associated genetic defects. Rather than being exhaustive, this table illustrates a variety of well characterised PIDs. Complete listing of all human PIDs can be found in a recent report by Geha et al.30 In the absence of universal screening for PIDs the prevalence estimates are based on the available literature, although these figures likely underestimate the true prevalence for a variety of reasons including lack of awareness of PIDs and death before recognition of the underlying PID.