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GENATLAS PHENOTYPE
last update : 12/06/2006
Symbol AGMX1
Location Xq22.1
Name agammaglobulinemia 1, Bruton type
Other name(s)
  • immunodeficiency 1
  • agammaglobulinemia, Xlinked, type I
    • Corresponding gene BTK
    Other symbol(s) IMD1, XLA
    Main clinical features
  • patients prone to bacterial infection
  • absence of plasma cells
  • before antibiotics, death occurred in the first decade
    • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name SRC related tyrosine kinase (BTK), signal transduction
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   unknown genomic rearrangements involving Alu repeats
    missense   truncated protein Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme.
    Remark(s)