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GENATLAS PHENOTYPE
last update : 09-04-2015
Symbol WASP
Location Xp11.23
Name Wiskott-Aldrich syndrome
Other name(s)
  • immunodeficiency 2
  • Aldrich syndrome
    • Corresponding gene WAS
    Other symbol(s) IMD2, WAS
    Main clinical features
  • affected males usually present in infancy with profound thrombocytopenia and small platelets size with risk of serious bleeding, eczema, recurrent bacterial and viral complications. WAS is a life-threatening condition. Surviving patients are at risk of lymphoma and autoimmune disorders.
  • remarkable variable expressivity of clinical findings even in the same kindred
    • Genetic determination sex linked
    Prevalence 1-10 per million males
    Related entries XLT, XLN
    Function/system disorder hematology
    Type disease
    Gene product
    Name Wiskott-Aldrich syndrome protein (WASP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function ~240 pathologic WAS mutations described,with half of them being missence or nonsense mutation and the remaining of various other types, thoroughly distributed
    Remark(s)
  • WAS related disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT) and X-linked neutropenia (XLN). They represent a continuum rather than distinct entities
  • Pro373Ser mutation reduces Tyr291 phosphorylation and prevents conformational changes required for WASP activity in chemotaxis and T-cell activation (PMID: 24440360))
    • Genotype/Phenotype correlations WAS protein expression could be a better predictor of clinical severity than mutation alone