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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol CYBA
Location 16q24.3
Name chronic granulomatous disease
Corresponding gene CYBA
related resource Autosomal recessive chronic granulomatous disease (CGD) deficiency of p22phox CYBAbase
Main clinical features
  • heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes with hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infections
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name cytochrome b-558, alpha polypeptide, p22-phox
    Remark(s)