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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-12-2013
Symbol CVID9
Location 3p21.1
Name immunodeficiency, common variable, 9
Corresponding gene PRKCD
Main clinical features
  • primary immune deficiency syndrome characterized by B-cell deficiency and severe autoimmunity
  • recurrent infections involving most systems (respiratory, urinary, gastrointestinal) beginning in the first year of life
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease