Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. (21st December 2020)

• Record Type: Journal Article
• Authors: Prucha, Miroslav; Grombirikova, Hana; Zdrahal, Pavel; Bloomfield, Marketa; Parackova, Zuzana; Freiberger, Tomas
• Other Names: Drouet Christian Academic Editor.
• Is Part Of: Case reports in immunology. Volume 2020(2020)
• Publication Date: 2020-12-21
• Subjects: Immunology -- Periodicals; Immunology -- Case studies -- Periodicals; Immune System Phenomena; Immunology; Immunology; Case studies; Periodicals; 571.96
• DOI: 10.1155/2020/8836685
• Languages: English
• ISSNs: 2090-6609

Abstract

Abstract : We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. The disease was diagnosed at an adult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontuberculous mycobacteria: Mycobacterium lentiflavum, M. kansasii, and M. avium . A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in IFNGR1 in a heterozygous state was detected using whole-exome sequencing. After interferon- γ therapy was started at a dose of 200 µ g/m 2 three times a week, there was significant clinical improvement, with the need to continue the macrolide-based combination regimen. In the last 4 months, she has been in this therapy without the need for antibiotic treatment.