IDENTIFICATION OF THE DEFECTIVE NADPH-OXIDASE COMPONENT IN CHRONIC GRANULOMATOUS-DISEASE - A STUDY OF 57 EUROPEAN FAMILIES

被引：34

作者：

CASIMIR, C ^{[1
]}

CHETTY, M ^{[1
]}

BOHLER, MC ^{[1
]}

GARCIA, R ^{[1
]}

FISCHER, A ^{[1
]}

GRISCELLI, C ^{[1
]}

JOHNSON, B ^{[1
]}

SEGAL, AW ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD, DEPT IMMUNOL, PARIS, FRANCE

来源：

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION | 1992年 / 22卷 / 06期

基金：

英国惠康基金;

关键词：

CHRONIC GRANULOMATOUS DISEASE; NEUTROPHIL; NBT TEST; WESTERN BLOT;

D O I：

10.1111/j.1365-2362.1992.tb01481.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Chronic Granulomatous Disease (CGD) manifests as a predisposition to infection as a result of defective function of the NADPH oxidase of phagocytic cells. Proteins identified as part of this system include two subunits of a cytochrome b (cytochrome b-245) and two cytosolic factors. The affected oxidase component was determined in 63 CGD patients from 57 families, by Western blotting of extracts of their neutrophils with antibodies to those proteins. 38 (67%) of the families were X-linked with a defect of the beta-subunit of the cytochrome. 13 (23%) lacked p47-phox, 3 (5%) p67-phox, and 3 (5%) the alpha-subunit of the cytochrome.

引用

页码：403 / 406

页数：4

共 33 条

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SEGAL AW, 1978, LANCET, V2, P446

[22] CYTOCHROME-B-245 AND ITS INVOLVEMENT IN THE MOLECULAR PATHOLOGY OF CHRONIC GRANULOMATOUS-DISEASE [J].