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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families
Journal of Clinical Immunology, Volume 29, No. 2, Year 2009
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Description
Introduction: Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components. Material and methods: Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families. Results and Discussion: Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation's location was not found. One patient had an extremely rare X+CGD subtype resulting from a novel missense mutation (G1234C) in exon 10 of CYBB. We found a genetic heterogeneity in the Jordanian families with a high frequency of rare ARCGD, probably because consanguineous marriages are common in Jordan. No clear correlation between the severity of the clinical symptoms and the CGD types could be established. © 2008 Springer Science+Business Media, LLC.
Authors & Co-Authors
Bakri, F. G.
Jordan, Amman
Jordan University Hospital
Martel, Cécile
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
Khuri-Bulos, Najwa A.
Jordan, Amman
Jordan University Hospital
Mahafzah, Azmi M.
Jordan, Amman
Jordan University Hospital
El-Khateeb, Mohammed S.
Jordan, Amman
The University of Jordan
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Al-Wahadneh, Adel Mohammed
Jordan, Amman
King Hussein Medical Center, Amman
Hayajneh, Wail A.
Jordan, Irbid
Jordan University of Science and Technology
Hamamy, Hanan Ali
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Maquet, Elisabeth
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
Molin, Michelle
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
STASIA, Marie José
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Statistics
Citations: 37
Authors: 11
Affiliations: 7
Identifiers
Doi:
10.1007/s10875-008-9243-y
ISSN:
02719142
e-ISSN:
15732592
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health