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A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
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  • A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
  • A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
저자명
Lee. Eu Kyoung,Eem. Yeun-Joo,Chung. Nack-Gyun,Kim. Myung Shin,Jeong. Dae Chul
간행물명
Korean journal of pediatrics
권/호정보
2013년|56권 6호|pp.265-268 (4 pages)
발행정보
대한소아과학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.