医学
女孩
儿科
突变
家族性地中海热
内科学
疾病
基因
遗传学
生物
作者
Kate Hodgson,Nigel W. Crawford,Jonathan Akikusa
出处
期刊:Case Reports
[BMJ]
日期:2014-04-12
卷期号:: bcr2013201627-bcr2013201627
被引量:4
标识
DOI:10.1136/bcr-2013-201627
摘要
We present the case of an 11-month-old girl who presented with recurrent febrile episodes and was found to have tumour necrosis factor receptor-associated periodic syndrome due to a novel mutation in the TNFRSF1A gene. The concept of autoinflammatory diseases is discussed and the management of this condition reviewed.
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