Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive genetic disease characterized by thrombocytopenia,eczema,and immunodeficiency,which is mainly caused by abnormal expression of Wiskott-Aldrich syndrome protein(WASp)due to WAS genemutation.WAS is mainly reported in males,few in females.Here we reported a female case who was diagnosed with WAS in Nanjing Children's Hospital.The girl was hospitalized due to pale complexion for 2 months and petechiae for 2 days.The main clinical manifestations were autoimmune amentia,thrombocytopenia accompanied with eczema,recurrent infections for 6 years.Genetic analysis revealed the girl carried a heterozygous nonsense mutation existed in exon 1 of WAS gene,from her mother.Furthermore,the X-chromosomes bearing normal WAS gene werepredominantly inactivated,which might elucidate the pathogenesis of WAS in females.Hence,we summarized clinical manifestation and genetic analysis,with literature review in female WAS.We hope to increase clinicians'awareness of female patients.For those who are suspected of WAS,it is recommended to conduct a genetic analysis to diagnose and treat in time.
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