Delayed separation of the umbilical cord in two siblings with interleukin-1 receptor-associated kinase 4 deficiency: Rapid screening by flow cytometer

被引：44

作者：

Takada, Hidetoshi

Yoshikawa, Hideto

Imaizumi, Masue

Kitamura, Taro

Takeyama, Junji

Kumaki, Satoru

Nomura, Akihiko

Hara, Toshiro

机构：

[1] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Higashi Ku, Fukuoka 8128582, Japan

[2] Tohoku Univ, Dept Neurol, Sendai, Miyagi 980, Japan

[3] Tohoku Univ, Dept Hematol & Oncol, Sendai, Miyagi 980, Japan

[4] Tohoku Univ, Dept Clin Pathol, Miyagi Childrens Hosp, Sendai, Miyagi 980, Japan

[5] Tohoku Univ, Dept Pediat Oncol, Inst Dev Aging & Canc, Sendai, Miyagi 980, Japan

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 04期

关键词：

D O I：

10.1016/j.jpeds.2005.12.015

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe 2 siblings who had interleukin-1 receptor-associated kinase 4 deficiency with a novel mutation in exon 2. They had delayed separation of the umbilical cord. The flow cytometric analysis of monocytic intracellular tumor necrosis factor-a production in response to lipopolysaccharide may be a useful method to screen for the disease.

引用

页码：546 / 548

页数：3

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