RESUMEN
The Wiskott-Aldrich syndrome (WAS) related disorders,which include WAS,X-linked thrombocytopenia (XLT),and X-linked congenital neutropenia (XLN),are caused by WAS gene mutation and inherited in an X-linked recessive manner.The main clinical features of these disorders are eczema,thrombocytopenia and immunodeficiency.They can lead to severe complications,so early diagnosis and early treatment are necessary.In severe cases,allogeneic hematopoietic stem cell transplantation is required.
RESUMEN
The Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive immunodeficiency disorder characterized by thrombocytopenia and small platelets,eczema,recurrent infections,and increased risk for autoimmunity and malignancy.The gene responsible for this syndrome is WAS protein(WASP)gene.Six mutational hotspots have been identified now.Flow cytometric analysis of the WASP expression in lymphocytes is simple,rapid,and applicable for screening of WAS.WASP gene sequencing analysis can confirm the diagnosis.Hemato-poietic stem cell transplantation(HSCT)is the mainstay of treatment for WAS.So far more than 40 WAS patients have been diagnosed in China.Due to the few reports and varied clinical manifestations,WAS is often misdiagnosed as idiopathic thrombocytopenic purpura.This review will focus on recent progress in understanding the clinical presentations associated with mutations of the WASP gene,the genotype-phenotype correlation and management of this lethal disease.