Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.
case_report · Level V
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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.
Medical subject headings
- Flow Cytometry
- Immunologic Deficiency Syndromes
- Intracellular Signaling Peptides and Proteins
- Protein Serine-Threonine Kinases
- Tumor Necrosis Factor-alpha
- Umbilical Cord