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
收藏
页码：546 / 548
页数：3
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