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

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)546-548
Number of pages3
JournalJournal of Pediatrics
Volume148
Issue number4
DOIs
Publication statusPublished - Apr 2006

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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