Table 1 |
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Classification of PIDs: examples and typical clinical presentations [5,8] |
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Classification and examples |
Clinical presentation |
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Disorders of adaptive immunity |
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T-cell (cellular) immunodeficiency ► IFN-γ/IL-12 ► AIRE mutations |
Atypical mycobacterial and salmonella infections Mucocutaneous candidiasis (thrush) and autoimmune endocrinopathy |
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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 |
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CID ► Wiskott-Aldrich syndrome |
Thrombocytopenia with bleeding and bruising; eczema; recurrent bacterial and viral infections; autoimmune disease |
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► Ataxia telangiectasia |
Chronic sinopulmonary disease; cerebellar ataxia (difficulty with control of movement); small, dilated blood vessels of the eyes and skin; malignancy |
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► DiGeorge syndrome |
Hypoparathyroidism; seizures; cardiac abnormalities; abnormal facies; infection |
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► SCID • T- , B+ – γc deficiency – JAK3 deficiency • T- , B- – ADA deficiency – RAG 1/2 deficiency |
Severe, recurrent opportunistic infections; failure to thrive; diarrhea; rash |
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Disorders of innate immunity |
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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 |
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Complement defects ► Deficiency in early complement pathway components (C1q, C1r, C2, C4) |
SLE–like syndrome, rheumatoid disease, multiple autoimmune diseases, infections |
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► Deficiency in late complement pathway components (C5, C6, C7, C8, C9) |
Neisserial infections, SLE-like syndrome |
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► C3 and regulatory components |
Recurrent infections with encapsulated bacteria |
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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 |
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McCusker and Warrington Allergy, Asthma & Clinical Immunology 2011 7(Suppl 1):S11 doi:10.1186/1710-1492-7-S1-S11 |
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