Title of article
Mendelian Susceptibility to Mycobacterial Disease: The FirstCase of a Diagnosed Adult Patient in the Czech Republic
Author/Authors
Prucha, Miroslav Department of Clinical Biochemistry - Hematology and Immunology - Na Homolce Hospital - Prague, Czech Republic , Grombirikova, Hana Centre for Cardiovascular Surgery and Transplantation - Brno, Czech Republic , Freiberger, Tomas Centre for Cardiovascular Surgery and Transplantation - Brno, Czech Republic , Zdrahal, Pavel Department of Vascular Surgery - Na Homolce Hospital - Prague, Czech Republic , Bloomfield, Marketa Department of Immunology - Motol University Hospital and Second Faculty of Medicine - Charles University - Prague, Czech Republic , Parackova, Zuzana Department of Immunology - Motol University Hospital and Second Faculty of Medicine - Charles University - Prague, Czech Republic
Pages
5
From page
1
To page
5
Abstract
We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. )e disease was diagnosed at anadult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontuberculousmycobacteria:Mycobacterium lentiflavum,M. kansasii, andM. avium. A previously published loss-of-function and functionallyvalidated variant NM_000416.2:c.819_822delTAAT inIFNGR1in a heterozygous state was detected using whole-exome se-quencing. After interferon-ctherapy was started at a dose of 200μg/m2three times a week, there was significant clinical im-provement, with the need to continue the macrolide-based combination regimen. In the last 4 months, she has been in this therapywithout the need for antibiotic treatment.
Keywords
Mendelian Susceptibility , Mycobacterial Disease , Diagnosed Adult Patient , Czech Republic , IFNGR1 , Mendelian susceptibility to mycobacterial diseases(MSMD)
Journal title
Case Reports in Immunology
Serial Year
2020
Full Text URL
Record number
2612425
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