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

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

Content Provider	Springer Nature Link
Author	Bakri, Faris G. Martel, Cécile Khuri Bulos, Najwa Mahafzah, Azmi El Khateeb, Mohammad S. Al Wahadneh, Adel M. Hayajneh, Wail A. Hamamy, Hanan A. Maquet, Elisabeth Molin, Michelle Stasia, Marie José
Copyright Year	2008
Abstract	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.Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families.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.
Starting Page	215
Ending Page	230
Page Count	16
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	29
Issue Number	2
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2008-09-05
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Chronic granulomatous disease CYBA CYBB NCF1 NCF2 NADPH oxidase innate immunodeficiency autosomal recessive X-linked recessive Medical Microbiology Internal Medicine Infectious Diseases Immunology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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