期刊
MICROBES AND INFECTION
卷 2, 期 13, 页码 1553-1557出版社
EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
DOI: 10.1016/S1286-4579(00)01311-3
关键词
IFN-gamma; mycobacteria; genetic heterogeneity
Mendelian susceptibility to poorly virulent mycobacterial species, such as bacillus Calmette-Guerin (BCG) and environmental nontuberculous mycobacteria (NTM), is a phenotypically heterogeneous syndrome. It has therefore long been suspected to be genetically heterogeneous. In the past 5 years, this prediction has been confirmed and different types of mutations (dominant or recessive, nonfunctional or hypofunctional) in four genes (IFNGR1, IFNGR2, IL12B, IL12RB1) have revealed both allelic and nonallelic heterogeneity. The eight disorders resulting from these mutations are genetically different but immunologically related, as impaired IFN-gamma -mediated immunity is the common pathogenic mechanism accounting for mycobacterial infection in all patients. The severity of the phenotype depends on the genotype. Complete IFN-gamma R1 and IFN-gamma R2 deficiencies predispose patients to a more severe clinical course than partial IFN-gamma R1 and IFN-gamma R2 deficiencies and complete IL-12 p40 and IL-12R beta1 deficiencies. (C) 2000 Editions scientifiques et medicales Elsevier SAS.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据