. DEFECTS OF ADAPTIVE IMMUNITY .
Syndromes with combined immunodeficiency refer to a group of rare and congenital disorders characterized by a compromised response of the adaptive immune system, due to a low T cell and often B cell function, and by syndromic features, autoimmunity, or inflammation. More than one body system is usually affected. Examples of syndromes encompassed by this group include dyskeratosis congenita, hyper-IgE syndrome, Wiskott-Aldrich syndrome, and ataxia-telangiectasia, among others.
- Recurrent infections
- Aplastic anemia
- Onset: infancy, childhood, adulthood
- 1 :10,000 – 1:1,000,000 (HIES)
- 1:100,000 – 1:1,000,000 (DKC)
- 1:100,000 – 1:1,000,000 (WAS)
Service benefits and management
- Genetic diagnosis and counselling
- Hematopoietic stem cell transplantation (HSCT)
ACD, ACP5, ARPC1B, ATM, BLM, CCBE1, CDCA7, CHD7, CTC1, DCLRE1B, DKC1, DNMT3B, DOCK2, DOCK8, EPG5, ERCC6L2, EXTL3, FOXP3, GINS1, HELLS, IKBKG, IL21R, KDM6A, KMT2D, LIG1, MCM4, MTHFD1, MYSM1, NBN, NFKBIA, NHP2, NOP10, NSMCE3, ORAI1, PARN, PGM3, PHF11, PMS2, PNP, POLE, POLE2, PRPS1, RBCK1, RMRP, RNF168, RNF31, RNU4ATAC, RTEL1, SAMD9, SAMD9L, SEMA3E, SLC46A1, SMARCAL1, SP110, SPATA5, SPINK5, STAT3, STAT5B, STIM1, STK4, STN1, TBX1, TCN2, TERC, TERT, TINF2, TTC7A, TYK2, USB1, WAS, WIPF1, WRAP53, ZBTB24, ZNF341