PMID: 16647421DOI: 10.1016/j.jpeds.2005.12.015May 2, 2006Paper
Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer
The Journal of Pediatrics
Hidetoshi TakadaToshiro Hara
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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