Table 1 Simplified classification of PIDs: examples and typical clinical presentations.

T-cell (cellular) immunodeficiency

 • IFN-γ/IL-12

Atypical mycobacterial and salmonella infections

 • AIRE mutations

Mucocutaneous candidiasis (thrush) and autoimmune endocrinopathy

B-cell (antibody-mediated) immunodeficiency

 • XLA

 • CVID

 • Selective IgA deficiency

Recurrent sinopulmonary infections with encapsulated bacteria

 • Specific antibody deficiency

Autoimmune disease and increased risk of malignancy in CVID

 • IgG subclass deficiency

CID

 • Wiskott-Aldrich syndrome

Thrombocytopenia with bleeding and bruising; eczema; recurrent bacterial and viral infections; autoimmune disease

 • Ataxia telangiectasia

Chronic sinopulmonary disease; cerebellar ataxia (difficulty with control of movement); small, dilated blood vessels of the eyes and skin; malignancy

 • DiGeorge syndrome

Hypoparathyroidism; seizures; cardiac abnormalities; abnormal facies; infection

 • Hyper IgE syndrome

Chronic dermatitis; recurrent, severe lung infections; skin infections; bone fragility; failure to shed primary teeth

 • SCID

   T⁻, B⁺

   ▪ γc deficiency

   ▪ JAK3 deficiency

Severe, recurrent opportunistic infections; failure to thrive; diarrhea; rash

   T⁻, B⁻

   ▪ ADA deficiency

   ▪ RAG 1/2 deficiency

Phagocyte defects

   ▪ Chronic granulomatous disease

Severe infection; abscesses with granuloma formation

   ▪ Leukocyte adhesion deficiency

Recurrent, severe bacterial infections; poor wound healing; delayed separation of the umbilical cord

Complement defects

   ▪ Deficiency in early complement pathway components (C1q, C1r, C2, C4)

SLE–like syndrome, rheumatoid disease, multiple autoimmune diseases, infections

   ▪ Deficiency in late complement pathway components (C5, C6, C7, C8, C9)

Neisserial infections, SLE-like syndrome

   ▪ C3 and regulatory components

Recurrent infections with encapsulated bacteria

 • HLH

Fever, splenomegaly, cytopenia, rash

 • ALPS

Splenomegaly, adenopathy

 • IPEX

Autoimmune enteritis, early onset diabetes, thyroiditits, hemolytic anemia, thrombocytopenia, eczema

 • APECED

Autoimmunity affecting parathyroid, adrenal, other endocrine organs; candidiasis; dental enamel hypoplasia