. DEFECTS OF ADAPTIVE IMMUNITY .

Syndromes with Combined Immunodeficiency panel [74 genes]

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.

Clinical features

  • Recurrent infections
  • Autoimmunity
  • Inflammation
  • Multisystemic
  • Aplastic anemia
  • Onset: infancy, childhood, adulthood

Prevalence

  • 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)
  • Immunosuppressants

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

This website uses cookies for the best user experience. If you continue browsing you are giving your consent for the acceptance of the aforementioned cookies and acceptance of our cookies policy, click on the link for more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Cerrar