期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 29, 期 2, 页码 215-230出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-008-9243-y
关键词
Chronic granulomatous disease; CYBA; CYBB; NCF1; NCF2; NADPH oxidase; innate immunodeficiency; autosomal recessive; X-linked recessive
类别
Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components. Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families. Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation's location was not found. One patient had an extremely rare X(+)CGD subtype resulting from a novel missense mutation (G1234C) in exon 10 of CYBB. We found a genetic heterogeneity in the Jordanian families with a high frequency of rare ARCGD, probably because consanguineous marriages are common in Jordan. No clear correlation between the severity of the clinical symptoms and the CGD types could be established.
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