用流式细胞仪快速筛查2名有白介素-1受体相关激酶-4缺乏的同胞的脐带脱落延迟

摘要

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.