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

Hidetoshi Takada, Hideto Yoshikawa, Masue Imaizumi, Taro Kitamura, Junji Takeyama, Satoru Kumaki, Akihiko Nomura, Toshiro Hara

研究成果: Contribution to journalArticle査読

43 被引用数 (Scopus)

抄録

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-α production in response to lipopolysaccharide may be a useful method to screen for the disease.

本文言語英語
ページ(範囲)546-548
ページ数3
ジャーナルJournal of Pediatrics
148
4
DOI
出版ステータス出版済み - 4 2006

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康

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