南非首例经基因证实的慢性肉芽肿病的新型 CYBB 突变。
A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa.
机构信息
Paediatric Infectious Diseases Unit, Red Cross War Memorial Childrens's Hospital, Cape Town, South Africa.
出版信息
S Afr Med J. 2011 Sep 27;101(10):768-9.
PMID:22272860
Abstract
A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.
摘要
本文描述了一例患有慢性肉芽肿病（CGD）的儿童，其表现为反复发生分枝杆菌感染和侵袭性烟曲霉病。基因分析证实存在 X 连锁 CGD，CYBB 基因第 10 外显子存在新突变 - 这是南非首例经基因证实的 CGD 报告。
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