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GENATLAS PHENOTYPE
last update : 18/09/2007
Symbol XLN
Location Xp11.23
Name neutropenia, severe congenital
Corresponding gene WAS
Main clinical features
  • recurrent major bacterial infections,associated monocytopenia and at bone marrow examination,arrest at the promyelocyte/myelocyte stage
    • Genetic determination sex linked
    Related entries WASP
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name Wiskott-Aldrich syndrome protein (WASP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   over-expression constitutively activating mutation L270P
    Remark(s) allelic to Wiskott-Aldrich syndrome (WASP), some other mutations cause X-linked thrombocytopenia without Wiskott-Aldrich syndrome symptoms (XLT)