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
收藏
页码：403 / 406
页数：4
相关论文
共 33 条
[1]   A STUDY OF 25 PATIENTS WITH CHRONIC GRANULOMATOUS-DISEASE - A NEW CLASSIFICATION BY CORRELATING RESPIRATORY BURST, CYTOCHROME-B, AND FLAVOPROTEIN [J].
BOHLER, MC ;
SEGER, RA ;
MOUY, R ;
VILMER, E ;
FISCHER, A ;
GRISCELLI, C .
JOURNAL OF CLINICAL IMMUNOLOGY, 1986, 6 (02) :136-145
[2]   A VARIANT FORM OF X-LINKED CHRONIC GRANULOMATOUS-DISEASE WITH NORMAL NITROBLUE TETRAZOLIUM SLIDE TEST AND CYTOCHROME-B [J].
BORREGAARD, N ;
CROSS, AR ;
HERLIN, T ;
JONES, OTG ;
SEGAL, AW ;
VALERIUS, NH .
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 1983, 13 (03) :243-248
[3]   AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS-DISEASE CAUSED BY DELETION AT A DINUCLEOTIDE REPEAT [J].
CASIMIR, CM ;
BUGHANIM, HN ;
RODAWAY, ARF ;
BENTLEY, DL ;
ROWE, P ;
SEGAL, AW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (07) :2753-2757
[4]   GENETIC-VARIANTS OF CHRONIC GRANULOMATOUS-DISEASE - PREVALENCE OF DEFICIENCIES OF 2 CYTOSOLIC COMPONENTS OF THE NADPH OXIDASE SYSTEM [J].
CLARK, RA ;
MALECH, HL ;
GALLIN, JI ;
NUNOI, H ;
VOLPP, BD ;
PEARSON, DW ;
NAUSEEF, WM ;
CURNUTTE, JT .
NEW ENGLAND JOURNAL OF MEDICINE, 1989, 321 (10) :647-652
[5]   CYTOSOLIC COMPONENTS OF THE RESPIRATORY BURST OXIDASE - RESOLUTION OF 4 COMPONENTS, 2 OF WHICH ARE MISSING IN COMPLEMENTING TYPES OF CHRONIC GRANULOMATOUS-DISEASE [J].
CURNUTTE, JT ;
SCOTT, PJ ;
MAYO, LA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (03) :825-829
[6]   CLASSIFICATION OF CHRONIC GRANULOMATOUS-DISEASE [J].
CURNUTTE, JT .
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 1988, 2 (02) :241-252
[7]   HUMAN NEUTROPHIL CYTOCHROME-B LIGHT CHAIN (P22-PHOX) - GENE STRUCTURE, CHROMOSOMAL LOCATION, AND MUTATIONS IN CYTOCHROME-NEGATIVE AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS-DISEASE [J].
DINAUER, MC ;
PIERCE, EA ;
BRUNS, GAP ;
CURNUTTE, JT ;
ORKIN, SH .
JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (05) :1729-1737
[8]   A MISSENSE MUTATION IN THE NEUTROPHIL CYTOCHROME-B HEAVY-CHAIN IN CYTOCHROME-POSITIVE X-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].
DINAUER, MC ;
CURNUTTE, JT ;
ROSEN, H ;
ORKIN, SH .
JOURNAL OF CLINICAL INVESTIGATION, 1989, 84 (06) :2012-2016
[9]   THE GLYCOPROTEIN ENCODED BY THE X-LINKED CHRONIC GRANULOMATOUS-DISEASE LOCUS IS A COMPONENT OF THE NEUTROPHIL CYTOCHROME-B COMPLEX [J].
DINAUER, MC ;
ORKIN, SH ;
BROWN, R ;
JESAITIS, AJ ;
PARKOS, CA .
NATURE, 1987, 327 (6124) :717-720
[10]  
Gullick W J, 1988, Methods Mol Biol, V3, P341, DOI 10.1385/0-89603-126-8:341
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