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