title: Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Biology and Health URAC34-Metabolic and Immunologic pathology Research Team, Faculty of Science of Ben M'sik, King Hassan II University, Casablanca, Morocco.
authors.forename: Laila Ait
authors.initials: LA
authors.lastname: Baba
authors.forename: Fatima
authors.initials: F
authors.lastname: Ailal
authors.forename: Naima
authors.initials: N
authors.lastname: El Hafidi
authors.forename: Marjorie
authors.initials: M
authors.lastname: Hubeau
authors.forename: Fabienne
authors.initials: F
authors.lastname: Jabot-Hanin
authors.forename: Noufissa
authors.initials: N
authors.lastname: Benajiba
authors.forename: Zahra
authors.initials: Z
authors.lastname: Aadam
authors.forename: Francesca
authors.initials: F
authors.lastname: Conti
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.forename: Leila
authors.initials: L
authors.lastname: Jeddane
authors.forename: Ayoub
authors.initials: A
authors.lastname: Aglaguel
authors.forename: Ouafaa
authors.initials: O
authors.lastname: El Maataoui
authors.forename: Ahmed
authors.initials: A
authors.lastname: Tissent
authors.forename: Chafiq
authors.initials: C
authors.lastname: Mahraoui
authors.forename: Jilali
authors.initials: J
authors.lastname: Najib
authors.forename: Ruben
authors.initials: R
authors.lastname: Martinez-Barricarte
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Norddine
authors.initials: N
authors.lastname: Habti
authors.forename: Rachid
authors.initials: R
authors.lastname: Saile
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Hanane
authors.initials: H
authors.lastname: Salih Alj
authors.forename: Ahmed Aziz
authors.initials: AA
authors.lastname: Bousfiha
mesh_terms: D000293:Adolescent; D000483:Alleles; D001228:Aspergillosis / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D001424:Bacterial Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C527764:NCF2 protein, human; C060505:neutrophil cytosolic factor 1