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GENATLAS PHENOTYPE
last update : 20-09-2013
Symbol CVID2
Location 17p11.2
Name common variable immunodeficiency 2
Corresponding gene TNFRSF13B
Other symbol(s) IGAD, CVID
Main clinical features
  • acquired hypogammaglobulinemia, antibody deficiency, and recurrent bacterial infections, with B lymphocytes having surface recognition antigens, but they lack the mechanism for plasma cell differentiation, including IgA deficiency
  • recurrent infections with encapsulated microorganisms, impaired production of antibodies, and lymphoproliferation.
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name tumor necrosis factor receptor superfamily, member 13B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function C104R or S144X homozygosity abrogating TNFSF13 binding
    Remark(s)