Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer
作者： Hidetoshi Takada , Hideto Yoshikawa , Masue Imaizumi , Taro Kitamura , Junji Takeyama
DOI: 10.1016/J.JPEDS.2005.12.015
关键词:
摘要: We describe 2 siblings who had interleukin-1 receptor-associated kinase 4 deficiency with a novel mutation in exon 2. They delayed separation of the umbilical cord. The flow cytometric analysis monocytic intracellular tumor necrosis factor-α production response to lipopolysaccharide may be useful method screen for disease.
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