第4级亲属的常染色体隐性白介素-1受体相关激酶-4缺乏
Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourthdegree relatives作者机构:Departments of Immunology and Microbiology Dr. Negrn Universitary Hospital Gran Canaria SpainDr.
出 版 物:《世界核心医学期刊文摘(儿科学分册)》 (Dkgest of the World Latest Medical Information)
年 卷 期:2006年第2卷第A10期
页 面:31-32页
学科分类:1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
主 题:常染色体隐性 外显率 细菌感染性疾病 显性遗传 名第 多基因遗传 侵袭性
摘 要:We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree relatives. A diagnosis of IRAK- 4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.