Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease

被引:12
作者
Cross, AR
Curnutte, JT
Heyworth, PG
机构
[1] Scripps Res Inst, DEPT MOL & EXPT MED, LA JOLLA, CA 92037 USA
[2] GENENTECH INC, DEPT IMMUNOL, San Francisco, CA 94080 USA
关键词
chronic granulomatous disease; mutation; phagocytes; neutrophils; autosomal recessive; NADPH oxidase; p67-phox; p47-phox; p22-phox;
D O I
10.1006/bcmd.1996.0109
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:268 / 270
页数:3
相关论文
共 20 条
[1]   Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden [J].
Ahlin, A ;
DeBoer, M ;
Roos, D ;
Leusen, J ;
Smith, CIE ;
Sundin, U ;
Rabbani, H ;
Palmblad, J ;
Elinder, G .
ACTA PAEDIATRICA, 1995, 84 (12) :1386-1394
[2]  
Aoshima M, 1996, BLOOD, V88, P1841
[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]  
CHANOCK SJ, 1991, BLOOD, V78, pA165
[5]   Hematologically important mutations: X-linked chronic granulomatous disease [J].
Cross, AR ;
Curnutte, JT ;
Rae, J ;
Heyworth, PG .
BLOOD CELLS MOLECULES AND DISEASES, 1996, 22 (08) :90-95
[6]   CHRONIC GRANULOMATOUS-DISEASE - THE SOLVING OF A CLINICAL RIDDLE AT THE MOLECULAR-LEVEL [J].
CURNUTTE, JT .
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1993, 67 (03) :S2-S15
[7]   AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS-DISEASE WITH ABSENCE OF THE 67-KD CYTOSOLIC NADPH OXIDASE COMPONENT - IDENTIFICATION OF MUTATION AND DETECTION OF CARRIERS [J].
DEBOER, M ;
HILARIUSSTOKMAN, PM ;
HOSSLE, JP ;
VERHOEVEN, AJ ;
GRAF, N ;
KENNEY, RT ;
SEGER, R ;
ROOS, D .
BLOOD, 1994, 83 (02) :531-536
[8]  
DEBOER M, 1992, AM J HUM GENET, V51, P1127
[9]   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
[10]   POINT MUTATION IN THE CYTOPLASMIC DOMAIN OF THE NEUTROPHIL P22-PHOX CYTOCHROME-B SUBUNIT IS ASSOCIATED WITH A NONFUNCTIONAL NADPH OXIDASE AND CHRONIC GRANULOMATOUS-DISEASE [J].
DINAUER, MC ;
PIERCE, EA ;
ERICKSON, RW ;
MUHLEBACH, TJ ;
MESSNER, H ;
ORKIN, SH ;
SEGER, RA ;
CURNUTTE, JT .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (24) :11231-11235