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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Chronic granulomatous disease in Morocco: Genetic, immunological, and clinical features of 12 patients from 10 kindreds
Journal of Clinical Immunology, Volume 34, No. 4, Year 2014
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Description
Purpose: Chronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life onwards. From 2009 to 2013, 12 cases of CGD were diagnosed in Morocco. We describe here these Moroccan cases of CGD. Methods: We investigated the genetic, immunological and clinical features of 12 Moroccan patients with CGD from 10 unrelated kindreds. Results: All patients were children suffering from recurrent bacterial and/or fungal infections. All cases displayed impaired NADPH oxidase activity in nitroblue tetrazolium (NBT), dihydrorhodamine (DHR) or 2′,7′ dichlorofluorescein diacetate (DCFH-DA) assays. Mutation analysis revealed the presence of four different mutations of CYBB in four kindreds, a recurrent mutation of NCF1 in three kindreds, and a new mutation of NCF2 in three patients from a single kindred. A large deletion of CYBB gene has detected in a patient. The causal mutation in the remaining one kindred was not identified. Conclusion: The clinical features and infectious agents found in these patients were similar to those in CGD patients from elsewhere. The results of mutation analysis differed between kindreds, revealing a high level of genetic and allelic heterogeneity among Moroccan CGD patients. The small number of patients in our cohort probably reflects a lack of awareness of physicians. Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of CGD patients in Morocco. © 2014 Springer Science+Business Media.
Authors & Co-Authors
Baba, Laila Ait
Morocco, Casablanca
Faculté Des Sciences Ben M’sick
Aïlal, Fatima
Morocco, Casablanca
Chu Averroes
El Hafidi, Naïma
Morocco, Agdal Rabat
Avicenne University Hospital
Hubeau, Marjorie
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Jabot-Hanin, Fabienne
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Benajiba, Noufissa
Morocco, Oujda
Mohammed Vi University Hospital
Aadam, Zahra
Morocco, Casablanca
Faculté Des Sciences Ben M’sick
Conti, Francesca
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Deswarte, Caroline
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Jeddane, Leïla
Morocco, Rabat
Mohammed V University in Rabat
Aglaguel, Ayoub
Morocco, Mohammedia
Faculté Des Sciences et Techniques de Mohammedia
El Maataoui, Ouafaa
Morocco, Casablanca
Chu Averroes
Tissent, A.
Morocco, Casablanca
Hassan Ii University of Casablanca
Mahraoui, Chafiq
Morocco, Agdal Rabat
Avicenne University Hospital
Najib, Jillali
Morocco, Casablanca
Chu Averroes
Martínez-Barricarte, Rubén
United States, New York
Rockefeller University
Abel, Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
United States, New York
Rockefeller University
Habti, Norddine
Morocco, Casablanca
Hassan Ii University of Casablanca
Saile, Rachid
Morocco, Casablanca
Faculté Des Sciences Ben M’sick
Casanova, Jean Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
United States, New York
Rockefeller University
Bustamante, Jacinta Cecilia
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Salih Alj, Hanane
Morocco, Casablanca
Faculté Des Sciences Ben M’sick
Bousfiha, Ahmed Aziz
Morocco, Casablanca
Chu Averroes
Statistics
Citations: 23
Authors: 23
Affiliations: 11
Identifiers
Doi:
10.1007/s10875-014-9997-3
ISSN:
02719142
e-ISSN:
15732592
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Morocco