First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

被引:0
作者
Faris G. Bakri
Cécile Martel
Najwa Khuri-Bulos
Azmi Mahafzah
Mohammad S. El-Khateeb
Adel M. Al-Wahadneh
Wail A. Hayajneh
Hanan A. Hamamy
Elisabeth Maquet
Michelle Molin
Marie José Stasia
机构
[1] Université J. Fourier,Laboratoire TIMC/IMAG UMR CNRS 5525, Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique
[2] Jordan University Hospital,Department of Medicine, Division of Infectious Diseases
[3] Jordan University Hospital,Department of Pediatrics, Division of Infectious Diseases
[4] Jordan University Hospital,Division of Microbiology
[5] University of Jordan,Department of Immunology, Faculty of Medicine
[6] King Hussein Medical Centre,Department of Pediatrics, Division of Immunology
[7] Jordan University of Science and Technology,Department of Pediatrics, Division of Infectious Diseases
[8] National Center for Diabetes,undefined
[9] Endocrinology,undefined
[10] and Genetics,undefined
[11] Centre Diagnostic et Recherche CGD,undefined
来源
Journal of Clinical Immunology | 2009年 / 29卷
关键词
Chronic granulomatous disease; NADPH oxidase; innate immunodeficiency; autosomal recessive; X-linked recessive;
D O I
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页码:215 / 230
页数:15
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[51]  
van Bruggen R(undefined)Regulation of novel superoxide-producing NAD(P)H oxidases undefined undefined undefined-undefined
[52]  
Eppink M(undefined)Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment undefined undefined undefined-undefined
[53]  
Roos D(undefined)156Pro–>Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox undefined undefined undefined-undefined
[54]  
Morel F(undefined)Human neutrophil cytochrome b light chain (p22 undefined undefined undefined-undefined
[55]  
Li XJ(undefined)): gene structure, chromosomal localization and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease undefined undefined undefined-undefined
[56]  
Fieschi F(undefined)Chronic granulomatous disease undefined undefined undefined-undefined
[57]  
Paclet MH(undefined)Hepatic abnormalities in patients with chronic granulomatous disease undefined undefined undefined-undefined
[58]  
Grunwald D(undefined)IPINET. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study undefined undefined undefined-undefined
[59]  
Campion Y(undefined)Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat undefined undefined undefined-undefined
[60]  
Gaudin P(undefined)undefined undefined undefined undefined-undefined