ArticleCase reports in infectious diseases2022
Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-
Article in Case reports in infectious diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Disseminated BCGitis with Interferon-Gamma Receptor Deficiency: An Example of an Extremely Rare Illness.Cureus · 2025Article
- Mendelian Susceptibility to Mycobacterial Disease - A Diagnostic and Therapeutic Challenge.Indian journal of pediatrics · 2024Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
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Abstract
Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Case: A 13-year-old female patient had multiple hospital visits since the age of 6 months. The most striking diagnosis was repeated mycobacterial infections. She had Conclusion: To the authors' knowledge, this is the first case report of Mendelian susceptibility to mycobacterial diseases secondary to interferon gamma receptor 1(IFNG-R1) defect in Ethiopia. Although it has been immensely challenging, our multidisciplinary team has learned a lot from the clinical presentation, diagnosis, and management of this child.
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Registered trials
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