1.
J Pediatr
; 148(4): 546-8, 2006 Apr.
Article
in English
| MEDLINE
| ID: mdl-16647421
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.