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

被引：47

作者：

Enders, A

Pannicke, U

Berner, R

Henneke, P

Radlinger, K

Schwarz, K

Ehl, S

机构：

[1] Univ Freiburg, Ctr Pediat & Adolescent Med, D-79106 Freiburg, Germany

[2] Univ Ulm, Inst Clin Transfus Med & Immunogenet Ulm, D-89069 Ulm, Germany

[3] Univ Ulm, Dept Transfus Med, D-89069 Ulm, Germany

[4] Childrens Hosp, Lorrach, Germany

来源：

JOURNAL OF PEDIATRICS | 2004年 / 145卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2004.06.065

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：698 / 700

页数：3

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