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

From: Primary immunodeficiency

Classification and examples Clinical presentation
Disorders of adaptive immunity
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  
  1. AIRE autoimmune regulator, CVID common variable immunodeficiency, IgG immunoglobulin G, IgE immunoglobulin E, IgA immunoglobulin A, IFNγ interferon-γ, 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, HLH hemophagocytic lymphohistiocytosis, ALPS autoimmune lymphoproliferative syndrome, IPEX immunodysregulation polyendocrinopathy enteropathy X-linked, APECED autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy
Disorders of innate immunity
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
  1. AIRE autoimmune regulator, CVID common variable immunodeficiency, IgG immunoglobulin G, IgE immunoglobulin E, IgA immunoglobulin A, IFNγ interferon-γ, 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, HLH hemophagocytic lymphohistiocytosis, ALPS autoimmune lymphoproliferative syndrome, IPEX immunodysregulation polyendocrinopathy enteropathy X-linked, APECED autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy
Disorders of immune dysregulation
 • 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
  1. AIRE autoimmune regulator, CVID common variable immunodeficiency, IgG immunoglobulin G, IgE immunoglobulin E, IgA immunoglobulin A, IFNγ interferon-γ, 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, HLH hemophagocytic lymphohistiocytosis, ALPS autoimmune lymphoproliferative syndrome, IPEX immunodysregulation polyendocrinopathy enteropathy X-linked, APECED autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy