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GENATLAS PHENOTYPE
last update : 24-11-2020
Symbol CVID3
Location 16p11.2
Name common variable immunodeficiency 3
Corresponding gene CD19
Main clinical features
  • characterized by hypogammaglobulinemia, antibody deficiency, and recurrent bacterial infections
  • defect of response of mature B cells to antigenic stimulation, with decreased CD27+ memory B cells and CD5+ B cells, severe hypogammagobulinemia due to poor response to antigen by mature B cells
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein stop codon, resulting in the deletion of the cytoplasmic domain (total or partial)
    Remark(s)