ArticleEuropean journal of pediatrics2010
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
Article in European journal of pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency.Frontiers in immunology · 2026Article
- Major histocompatibility complex class II deficiency in Morocco: a 26-year retrospective cohort study.Frontiers in immunology · 2026Article
- Major Histocompatibility Complex Class II Deficiency Beyond Infancy.Case reports in immunology · 2025Article
- Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.Frontiers in immunology · 2025Article
- New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.Immunologic research · 2024Article
- Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.Frontiers in immunology · 2024Article
- Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.Journal of clinical immunology · 2023Article
- Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.PloS one · 2021Article
- A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report.Immunologic research · 2020Article
- A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.Open forum infectious diseases · 2020Article
- Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.Frontiers in immunology · 2017Review
- Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.Frontiers in immunology · 2017Article
- Different evolutionary processes in shaping the genetic composition of Dendrobium nobile in southwest China.Genetica · 2015Article
- First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).Journal of clinical immunology · 2014Article
- Molecular defects in Moroccan patients with ataxia-telangiectasia.Neuromolecular medicine · 2013Article
- Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.Journal of clinical immunology · 2013Article
- Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile.Journal of clinical immunology · 2013Article
- Primary immunodeficiency diseases worldwide: more common than generally thought.Journal of clinical immunology · 2013Article
- Hypoxemic Bronchiolitis Related to Major Histocompatibility Class II Deficiency.Case reports in medicine · 2013Article
- Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2012Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Major histocompatibility complex class II plays a key role in the immune response, by presenting processed antigens to CD4+ lymphocytes. Major histocompatibility complex class II expression is controlled at the transcriptional level by at least four trans-acting genes: CIITA, RFXANK, RFX5 and RFXAP. Defects in these regulatory genes cause MHC class II immunodeficiency, which is frequent in North Africa. The aim of this study was to describe the immunological and molecular characteristics of ten unrelated Moroccan patients with MHC class II deficiency. Immunological examinations revealed a lack of expression of MHC class II molecules at the surface of peripheral blood mononuclear cells, low CD4+ T lymphocyte counts and variable serum immunoglobulin (IgG, IgM and IgA) levels. In addition, no MHC class II (HLA DR) expression was observed on lymphoblasts. The molecular analysis identified the same homozygous 752delG26 mutation in the RFXANK genes of all patients. This finding confirms the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population. These findings should facilitate the establishment of molecular diagnosis and improve genetic counselling for affected Moroccan families.
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