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在一个白细胞介素-1受体相关激酶4发生突变的家族中，两名患有致死性肺炎球菌脑膜炎的兄弟姐妹。

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

作者信息

Enders Anselm, Pannicke Ulrich, Berner Reinhard, Henneke Phillip, Radlinger Klaus, Schwarz Klaus, Ehl Stephan

机构信息

Center for Pediatrics and Adolescent Medicine, University of Freiburg, Germany.

出版信息

J Pediatr. 2004 Nov;145(5):698-700. doi: 10.1016/j.jpeds.2004.06.065.

DOI:10.1016/j.jpeds.2004.06.065
PMID:15520784
Abstract

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.

摘要

我们描述了两名患有白细胞介素-1相关激酶4（IRAK-4）基因纯合碱基对缺失的兄弟姐妹，其中一人的缺失已得到确认，另一人的缺失为推断所得，他们分别在2个月和14个月时死于肺炎球菌性脑膜炎。白细胞介素-1相关激酶4缺乏症是一种潜在的致命性免疫缺陷病，其特征是对化脓性感染的炎症反应较差。

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