Table 1 Classification of PIDs: examples and typical clinical presentations [5, 8]
From: Primary immunodeficiency
Classification and examples | Clinical presentation |
|---|---|
Disorders of adaptive immunity | |
T-cell (cellular) immunodeficiency ► IFN-γ/IL-12 ► AIRE mutations | Atypical mycobacterial and salmonella infections Mucocutaneous candidiasis (thrush) and autoimmune endocrinopathy |
B-cell (antibody-mediated) immunodeficiency â–º XLA â–º CVID â–º Selective IgA deficiency â–º Specific antibody deficiency â–º IgG subclass deficiency | Recurrent sinopulmonary infections with encapsulated bacteria Autoimmune disease and increased risk of malignancy in CVID |
CID â–º Wiskott-Aldrich syndrome | Thrombocytopenia with bleeding and bruising; eczema; recurrent bacterial and viral infections; autoimmune disease |
â–º Ataxia telangiectasia | Chronic sinopulmonary disease; cerebellar ataxia (difficulty with control of movement); small, dilated blood vessels of the eyes and skin; malignancy |
â–º DiGeorge syndrome | Hypoparathyroidism; seizures; cardiac abnormalities; abnormal facies; infection |
► SCID • T- , B+ – γ c deficiency – JAK3 deficiency • T- , B- – ADA deficiency – RAG 1/2 deficiency | Severe, recurrent opportunistic infections; failure to thrive; diarrhea; rash |
Disorders of innate immunity | |
Phagocyte defects â–º Chronic granulomatous disease â–º Hyper IgE syndrome â–º Leukocyte adhesion deficiency | Severe infection; abscesses with granuloma formation Chronic dermatitis; recurrent, severe lung infections; skin infections; bone fragility; failure to shed primary teeth 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 |
â–º Deficiency in late complement pathway components (C5, C6, C7, C8, C9) | Neisserial infections, SLE-like syndrome |
â–º C3 and regulatory components | Recurrent infections with encapsulated bacteria |