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Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome

13 Nov 2010

Abstract excerpt

PURPOSE OF REVIEW: The Wiskott-Aldrich syndrome (WAS), caused by mutations in the WAS gene, is a complex and diverse disorder with X-linked inheritance. This review focuses on recent developments in the understanding of its basic pathophysiology, diverse clinical phenotypes and optimal patient management including novel therapies. RECENT FINDINGS: The protein encoded by the WAS gene is a multifunctional signaling...

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PMID: 21076297
DOI: 10.1097/moh.0b013e32834114bc

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