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 1 2006

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Interleukin-1 Receptor-Associated Kinases
Umbilical Cord
Lipopolysaccharides
Exons
Tumor Necrosis Factor-alpha
Mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency : Rapid screening by flow cytometer. / Takada, Hidetoshi; Yoshikawa, Hideto; Imaizumi, Masue; Kitamura, Taro; Takeyama, Junji; Kumaki, Satoru; Nomura, Akihiko; Hara, Toshiro.

In: Journal of Pediatrics, Vol. 148, No. 4, 01.04.2006, p. 546-548.

Research output: Contribution to journalArticle

Takada, Hidetoshi ; Yoshikawa, Hideto ; Imaizumi, Masue ; Kitamura, Taro ; Takeyama, Junji ; Kumaki, Satoru ; Nomura, Akihiko ; Hara, Toshiro. / Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency : Rapid screening by flow cytometer. In: Journal of Pediatrics. 2006 ; Vol. 148, No. 4. pp. 546-548.
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