Genetic assessment |
Category of Primary Immunodeficiency Diseases |
Candidate sequencing |
I. Combined T- and B-cell immunodeficiencies |
T-B+: IL2RG, JAK3, IL7Rα
T-B- : RAG1/2, ADA
Hyper IgM syndrome : CD40L, CD40, AID, UNG, NEMO
ZAP-70 deficiency: ZAP-70
CD25 deficiency: IL2Rα
Hyper IgE syndrome: DOCK8
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II. Predominantly antibody deficiencies |
X-linked gammaglobulinemia: Btk
Common variable immunodeficiency: ICOS, CD19, TACI, BAFFR
Hyper IgM syndrome : CD40L, CD40, AID, UNG, NEMO
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III. Other well-defined immunodefieicncy syndromes |
Wiskott-Aldrich syndrome: WASP
DiGeroge syndrome: 22q11.2 deletion, TBX1
Cartilage hair hypoplasia: RMRP
Comel-Netherton syndrome: SPINK5
Hyper IgE syndrome: STAT3, TYK2, DOCK8
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IV. Diseases of immune dysregulation |
Immunodeficiency with hypopigmentation: Griscelli syndrome type II (RAB27A); Hermansky-Pudlak syndrome type II (AP3B1)
Familial hemophagocytic lymphocytosis: PRF1, UNC13D, STX11
Lymphoproliferative syndromes: SH2D1A, XIAP, ITK
APECD, Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (AIRE)
IPEX, Immune dysregulation, polyendocrinopathy, enteropathy (X-linked) (FOXP3)
CD25 deficiency: lymphoproliferation and autoimmunity. IL-2Rα)
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V. Congenital defects of phagocyte number, function or both |
Severe congenital neutropenia: ELA2, HAX1
Leukocyte adhesion deficiency type I (ITGB2) and type II (FUCT1)
Chronic granulomatous diseases (CYBB, CYBA, NCF1, NCF2)
Defective IL12/23-IFN-γ circuit : IL12RB1, IFNR1, INFR2, IL12p40, NEMO, STAT1
Hyper IgE syndrome: STAT3, TYK2, DOCK8
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VI. Defects in innate immunity |
Anhidrotic ectodermal dysplasia with immunodeficiency (NEMO)
IL-1 receptor associated kinase 4 deficiency (IRAK4)
MyD88 deficiency
Herpes simplex encephalitis (UNC93B1, TLR3)
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VII. Autoinflammatory disorders |
Familial Mediterranean fever (MEFV)
TRAPS: TNF receptor-associated periodic syndrome (TNFRSF1A)
Hyper IgD syndrome (MVK)
Familial cold autoinfammatory syndrome (CIAS1)
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VIII. Complement deficiencies |
Hereditary angioedema (C1 inhibitor)
Properdin deficiency (Properdin)
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