ArticleJournal of clinical immunology2023
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.
Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.Frontiers in public health · 2024Pooled it
- Genetic and immunologic determinants of BCG disease: from mechanism to prevention.Annals of medicine · 2026Review
- STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights.Journal of human immunity · 2026Article
- Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.Journal of clinical immunology · 2026Article
- Characteristics of Mycobacterial, COVID-19, and Talaromyces Marneffei Infections in Patients with IL12RB1 and IFNGR1 Mutations in Western China.Journal of clinical immunology · 2026Article
- Gastroenterological disorders in inborn errors of immunity. Part 2B. Overview of selected diseases.Przeglad gastroenterologiczny · 2026Review
- The immune system as a regulator of normal physiology.Frontiers in immunology · 2026Review
- Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood.Journal of clinical immunology · 2025Article
- Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model.Journal of human immunity · 2025Review
- Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.Journal of clinical medicine · 2025Article
- Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.Pathogens & immunity · 2025Article
- Exploiting induced pluripotent stem cell-derived retinal pigment epithelium to unravel host-pathogen interaction in ocular tuberculosis: a reverse translationalFrontiers in ophthalmology · 2025Article
- Interferon Gamma in Sickness Predisposing toBalkan medical journal · 2024Review
- Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.Journal of clinical immunology · 2024Article
- Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.Journal of clinical immunology · 2023Article
- Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
purposeThe first molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility to mycobacterial disease (MSMD). We aimed to study this Mendelian susceptibility to mycobacterial diseases in Moroccan kindreds through clinical, immunological, and genetic analysis.
methodsPatients presented with clinical features of MSMD were recruited into this study. We used whole blood samples from patients and age-matched healthy controls. To measure IL-12 and IFN-γ production, samples were activated by BCG plus recombinant human IFN-γ or recombinant human IL-12. Immunological assessments and genetic analysis were also done for patients and their relatives.
resultsOur study involved 22 cases from 15 unrelated Moroccan kindreds. The average age at diagnosis is 4 years. Fourteen patients (64%) were born to consanguineous parents. All patients were vaccinated with the BCG vaccine, and twelve of them (55%) developed locoregional or disseminated BCG infections. The other symptomatic patients had severe tuberculosis and/or recurrent salmonellosis. Genetic mutations were identified on the following genes: IL12RB1 in 8 patients, STAT1 in 7 patients; SPPL2A, IFNGR1, and TYK2 in two patients each; and TBX21 in one patient, with different modes of inheritance. All identified mutations/variants altered production or response to IFN-γ or both.
conclusionSevere forms of tuberculosis and complications of BCG vaccination may imply a genetic predisposition present in the Moroccan population. In the presence of these infections, systematic genetic studies became necessary. BCG vaccination is contraindicated in MSMD patients and should be delayed in newborn siblings until the exclusion of a genetic predisposition to mycobacteria.
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