Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Unlabelled: Mutations of the gene encoding the Wiskott-Aldrich syndrome protein (WASP) have been previously shown to be responsible for classical Wiskott-Aldrich syndrome (WAS), isolated X-linked thrombocytopenia (XLT) and severe congenital X-linked neutropenia.

Aims: Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT.

Methods: Mutation analysis was performed by PCR and sequence analysis.