Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 04-09-2017
Symbol IMD24
Location 1p34.2
Name Immunodeficiency 24
Corresponding gene CTPS1
Main clinical features
  • immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation
  • early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); also recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID)
  • Genetic determination
    Function/system disorder defense and immunity
    Type disease
    Remark(s)