ArticleAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2012
Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.
Article in Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 26 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
- 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
- Case Report: Novel splicing mutations inFrontiers in genetics · 2022Article
- Progressive Ataxia and Neurologic Regression inNeurology. Genetics · 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
- Major histocompatibility complex class II deficiency complicated by Mycobacterium avium complex in a boy of mixed ethnicity.Journal of clinical immunology · 2014Article
- Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.Journal of clinical immunology · 2013Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.
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