A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients

Journal of Clinical Immunology

Volumn 36, Issue 6, 2016, Pages 547-554

  Ben Farhat, Khaoula ^a,b   Ben Mustapha, Imen ^a,b,c   Ben Ali, Meriem ^a,b   Rouault, Karen ^d   Hamami, Saber ^e   Mekki, Najla ^a,b,c   Ben chehida, Amel ^f   Larguèche, Beya ^a   Fitouri, Zohra ^g   Abdelmoula, Selim ^f   khemiri, Monia ^g   Guediche, Mohamed Neji ^e   Boukthir, Samir ^g   Barsaoui, Sihem ^g   Chemli, Jalel ^h   Barbouche, Mohamed Ridha ^a,b,c  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^d CNRS   (France)

^e FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^f LA RABTA HOSPITAL   (Tunisia)

^g CHILDREN S HOSPITAL   (Tunisia)

^h SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

Chronic granulomatous disease; consanguinity; founder effect; NCF2 gene; Tunisia

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; BCG VACCINE; COTRIMOXAZOLE; GENOMIC DNA; ITRACONAZOLE; PROTEIN P67; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; RNA; TUBERCULOSTATIC AGENT; VORICONAZOLE; NCF2 PROTEIN, HUMAN;

ABSENCE OF SIDE EFFECTS; ANTIBIOTIC THERAPY; ANTIMICROBIAL THERAPY; ARTICLE; ASPERGILLUS NIGER; BONE LESION; BONE SCINTISCANNING; BRONCHOPNEUMONIA; CACHEXIA; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; DRUG TREATMENT FAILURE; ENZYME ACTIVITY; FEMALE; FEVER; FOUNDER EFFECT; FUNGAL COLONIZATION; GASTRIC SUCTION; GENE; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IMMUNOPATHOGENESIS; INCIDENCE; LUNG ASPERGILLOSIS; LUNG TUBERCULOSIS; MALE; MOLECULAR PATHOLOGY; MYCOBACTERIOSIS; NCF2 GENE; OSTEOMYELITIS; OTITIS; OVERLAPPING GENE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY FAILURE; RNA SPLICING; SCHOOL CHILD; SEGREGATION ANALYSIS; SEPSIS; SKIN DEFECT; THORAX RADIOGRAPHY; TUNISIAN; ALLELE; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; INFANT; METABOLISM; MUTATION; NEUTROPHIL; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TUNISIA;

ALLELES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GRANULOMATOUS DISEASE, CHRONIC; HAPLOTYPES; HUMANS; INFANT; MALE; MUTATION; NADPH OXIDASES; NEUTROPHILS; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TUNISIA;

EID: 84970028502     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0299-9     Document Type: Article

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