ReviewFrontiers in immunology2017
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Review in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.Journal of clinical immunology · 2023Pooled it
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- Obstructive Cholestasis in IL12RB1 Deficiency: A Case Report of an Unusual Hepatobiliary Presentation in Mendelian Susceptibility to Mycobacterial Disease.Case reports in pediatrics · 2026Article
- Article
- Lymphoblastoid andFrontiers in bioengineering and biotechnology · 2025Article
- Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.Pathogens & immunity · 2025Article
- Class II Transactivator Gene (The application of clinical genetics · 2024Article
- Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.Frontiers in genetics · 2023Article
- Autosomal recessiveFrontiers in immunology · 2023Article
- Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).Frontiers in immunology · 2022Article
- Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.Journal of clinical immunology · 2021Article
- Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.Frontiers in immunology · 2018Article
- The p.Arg435His Variation of IgG3 With High Affinity to FcRn Is Associated With Susceptibility for Pemphigus Vulgaris-Analysis of Four Different Ethnic Cohorts.Frontiers in immunology · 2018Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Although significant efforts have been made in recent years to develop genetic testing across the MENA region, few comprehensive studies reporting molecular basis of PIDs in these settings are available. Herein, we review genetic characteristics of PIDs identified in 168 patients from an inbred Tunisian population. A spectrum of 25 genes involved was analyzed. We show that AR forms compared to X-linked or autosomal dominant forms are clearly the most frequent. Furthermore, the study of informative consanguineous families did allow the identification of a novel hyper-IgE syndrome linked to phosphoglucomutase 3 mutations. We did also report a novel form of autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression as well as a novel AR transcription factor 3 deficiency. Finally, we identified several founder effects for specific AR mutations. This did facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families. All together, these findings highlight the specific nature of highly consanguineous populations and confirm the importance of unraveling the molecular basis of genetic diseases in this context. Besides providing a better fundamental knowledge of novel pathways, their study is improving diagnosis strategies and appropriate care.
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