[Wiskott-Aldrich syndrome. A report of a new mutation].

[wiskott-aldrich syndrome]

Wiskott-Aldrich syndrome was first reported clinically in 1937 , and in 1954 the classic triad was identified : eccema , recurrent infections and thrombocytopenia with an X-linked transmission . Its incidence is estimated at 1 to 10 in one million live births per year . Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp ), which identification and sequencing was first performed in 1994 , and since then about 300 mutations have been reported . This paper describes the case of a boy with Wiskott-Aldrich syndrome , with clinical and genetic diagnosis , with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia .