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J Pediatr. 2006 Apr;148(4):546-8.

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

Author information

  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, and the Department of Neurology, Miyagi Children's Hospital, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp

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

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PMID:
16647421
[PubMed - indexed for MEDLINE]
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