Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (First update)

被引:49
作者
Cross, AR
Noack, D
Rae, J
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
[3] DNAX Res Inst Mol & Cellular Biol Inc, Palo Alto, CA 94304 USA
关键词
D O I
10.1006/bcmd.2000.0333
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:561 / +
页数:6
相关论文
共 29 条
[21]   Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease [J].
Roesler, J ;
Curnutte, JT ;
Rae, J ;
Barrett, D ;
Patino, P ;
Chanock, SJ ;
Goerlach, A .
BLOOD, 2000, 95 (06) :2150-2156
[22]  
Roos D, 1999, PRIMARY IMMUNODEFICIENCY DISEASES, P353
[23]  
Roos D, 1996, BLOOD, V87, P1663
[24]   Genetic, biochemical, and clinical features of chronic granulomatous disease [J].
Segal, BH ;
Leto, TL ;
Gallin, JI ;
Malech, HL ;
Holland, SM .
MEDICINE, 2000, 79 (03) :170-200
[25]   A MUTATION LOCATED AT THE 5-BETA SPLICE JUNCTION SEQUENCE OF INTRON-3 IN THE P67(PHOX) GENE CAUSES THE LACK OF P67(PHOX) MESSENGER-RNA IN A PATIENT WITH CHRONIC GRANULOMATOUS-DISEASE [J].
TANUGICHOLLEY, LC ;
ISSARTEL, JP ;
LUNARDI, J ;
FREYCON, F ;
MOREL, F ;
VIGNAIS, PV .
BLOOD, 1995, 85 (01) :242-249
[26]   Primary immunodeficiency mutation databases [J].
Vihinen, M ;
Arredondo-Vega, FX ;
Casanova, JL ;
Etzioni, A ;
Giliani, S ;
Hammarström, L ;
Hershfield, MS ;
Heyworth, PG ;
Hsu, AP ;
Lähdesmäki, A ;
Lappalainen, I ;
Notarangelo, LD ;
Puck, JM ;
Reith, W ;
Roos, D ;
Schumacher, RF ;
Schwarz, K ;
Vezzoni, P ;
Villa, A ;
Väliaho, J ;
Smith, CIE .
ADVANCES IN GENETICS, VOL 43, 2001, 43 :103-188
[27]   INVITRO MOLECULAR RECONSTITUTION OF THE RESPIRATORY BURST IN B-LYMPHOBLASTS FROM P47-PHOX-DEFICIENT CHRONIC GRANULOMATOUS-DISEASE [J].
VOLPP, BD ;
LIN, Y .
JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (01) :201-207
[28]   Chronic granulomatous disease - Report on a national registry of 368 patients [J].
Winkelstein, JA ;
Marino, MC ;
Johnston, RB ;
Boyle, J ;
Curnutte, J ;
Gallin, JI ;
Malech, HL ;
Holland, SM ;
Ochs, H ;
Quie, P ;
Buckley, RH ;
Foster, CB ;
Chanock, SJ ;
Dickler, H .
MEDICINE, 2000, 79 (03) :155-169
[29]   Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients [J].
Yamada, M ;
Ariga, T ;
Kawamura, N ;
Ohtsu, M ;
Imajoh-Ohmi, S ;
Ohshika, E ;
Tatsuzawa, O ;
Kobayashi, K ;
Sakiyama, Y .
BRITISH JOURNAL OF HAEMATOLOGY, 2000, 108 (03) :511-517