Chuang Gung Medical Foundation, Division of Pediatric Allergy, Asthma and Rheumatology - UNREGISTERED VERSION

Go to content

Main menu

Genetic Assessment


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

II. Predominantly antibody deficiencies

X-linked gammaglobulinemia: Btk
Common variable immunodeficiency: ICOS, CD19, TACI, BAFFR
Hyper IgM syndrome : CD40L, CD40, AID, UNG, NEMO

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

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)

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

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)

VII. Autoinflammatory disorders

Familial Mediterranean fever (MEFV)
TRAPS: TNF receptor-associated periodic syndrome (TNFRSF1A)
Hyper IgD syndrome (MVK)
Familial cold autoinfammatory syndrome (CIAS1)

VIII. Complement deficiencies

Hereditary angioedema (C1 inhibitor)
Properdin deficiency (Properdin)

Back to content | Back to main menu unique visitor counter