ArticleJournal of human genetics2006
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Chronic granulomatous disease: A multicenter study from the MENA region.Journal of human immunity · 2026Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Review
- Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.Frontiers in immunology · 2021Article
- A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.Molecular genetics & genomic medicine · 2020Review
- Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.Journal of clinical immunology · 2020Article
- High expression of neutrophil cytosolic factor 2 (NCF2) is associated with aggressive features and poor prognosis of esophageal squamous cell carcinoma.International journal of clinical and experimental pathology · 2020Article
- Clinical, Immunological, and Molecular Findings of Patients with p47Journal of clinical immunology · 2016Article
- Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.Journal of clinical immunology · 2016Article
- A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.Journal of clinical immunology · 2016Article
- Review
- Chronic Granulomatous Disease.Indian journal of pediatrics · 2016Review
- X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.Journal of clinical immunology · 2016Article
- Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.Immunogenetics · 2016Article
- Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.Seminars in immunology · 2014Review
- Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china.Journal of clinical immunology · 2014Article
- Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.Journal of clinical immunology · 2014Article
- Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.Human molecular genetics · 2014Article
- Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India.Journal of clinical immunology · 2014Article
- Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Journal of clinical immunology · 2012Article
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited disorder, chronic granulomatous disease (CGD), which is characterized by an impaired phagocyte microbicidal activity. X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively. In the study reported here, we investigated genetic defects underlying CGD in 15 Tunisian patients from 14 unrelated families. Haplotype analyses and homozygosity mapping with microsatellite markers around known CGD genes assigned the genetic defect to NCF1 in four patients, to NCF2 in four patients and to CYBA in two patients. However, one family with two CGD patients seemed not to link the genetic defect to any known AR-CGD genes. Mutation screening identified two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, DeltaGT, in NCF1 and a splice site mutation previously reported in a North African patient. Our results revealed the genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia.
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