TY - JOUR
T1 - Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency
T2 - Rapid screening by flow cytometer
AU - Takada, Hidetoshi
AU - Yoshikawa, Hideto
AU - Imaizumi, Masue
AU - Kitamura, Taro
AU - Takeyama, Junji
AU - Kumaki, Satoru
AU - Nomura, Akihiko
AU - Hara, Toshiro
PY - 2006/4
Y1 - 2006/4
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jpeds.2005.12.015
DO - 10.1016/j.jpeds.2005.12.015
M3 - Article
C2 - 16647421
AN - SCOPUS:33646500324
SN - 0022-3476
VL - 148
SP - 546
EP - 548
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 4
ER -