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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
XLA
CVID
Selective IgA deficiency
Specific antibody deficiency
IgG subclass deficiency
Recurrent sinopulmonary infections with encapsulated bacteria
Autoimmune disease and increased risk of malignancy in CVID
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
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
Chronic granulomatous disease
Hyper IgE syndrome
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
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
  1. AIRE, autoimmune regulator; CVID, common variable immunodeficiency; IgG, immunoglobulin G; IgE, immunoglobulin E; IgA, immunoglobulin A; IFNγ, interferon-gamma; IL, interleukin; CID, combined immunodeficiency; SCID, severe combined immunodeficiency; XLA, X-linked agammaglobulinemia; SLE: systemic lupus erythematosus; JAK3, Janus kinase 3; ADA, adenosine deaminase; RAG, recombination activating gene