Table 1 Summary of PIDD Categories
Major category | Subcategory |
|---|---|
1. Immunodeficiencies affecting cellular and humoral immunity | • Severe combined immunodeficiencies, defined by CD3 T cell lymphopenia • Combined immunodeficiencies generally less profound than severe combined immunodeficiency |
2. Combined immunodeficiencies with associated or syndromic features | • Immunodeficiency with congenital thrombocytopenia • DNA repair defects other than those listed in major category 1 • Thymic defects with additional congenital anomalies • Immuno-osseous dysplasias • Hyper IgE syndromes • Dyskeratosis congenita, myelodysplasia, short telomeres • Defects of vitamin B12 and folate metabolism • Anhidrotic ectodermal dysplasia with immunodeficiency • Calcium channel defects • Others |
3. Predominantly antibody deficiencies | • Hypogammaglobulinemia • X-linked (Bruton’s) agammaglobulinemia (severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells) • Other antibody deficiencies • Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells, CVID phenotype • Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells, hyper IgM • Isotype, light chain, or functional deficiencies with generally normal numbers of B cells |
4. Diseases of immune dysregulation | • HLH and EBV susceptibility • Syndromes with autoimmunity and others |
5. Congenital defects of phagocyte number or function or both | • Congenital neutropenias • Functional defects • Defects of respiratory burst (chronic granulomatous disease) • Other non-lymphoid defects |
6. Defects in intrinsic and innate immunity | • Bacterial and parasitic infections • Mendelian susceptibility to mycobacterial disease and viral infection |
7. Autoinflammatory disorders | • Recurrent inflammation • Systemic inflammation with urticarial rash • Sterile inflammation (skin/bone/joints) • Type 1 interferonopathies • Others |
8. Complement deficiencies | • Susceptibility to infection • Disseminated neisserial infections • Recurrent pyogenic infections • SLE-like syndrome • Atypical hemolytic uremic syndrome • Others |
9. Bone marrow failure | • Fanconi anemia • Dyskeratosis congenita, myelodysplasia, defective telomere maintenance |
10. Phenocopies of PIDD | • Associated with somatic mutations • Associated with autoantibodies |