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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 mutation	Chromosome rearrangement	Effect	Comments
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)