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@article{1734857, author = {Prucha, Miroslav and Grombiříková, Hana and Zdrahal, Pavel and Bloomfield, Marketa and Parackova, Zuzana and Freiberger, Tomáš}, article_location = {LONDON}, article_number = {DEC 2020}, doi = {http://dx.doi.org/10.1155/2020/8836685}, keywords = {Mendelian Susceptibility; Mycobacterial Disease}, language = {eng}, issn = {2090-6609}, journal = {CASE REPORTS IN IMMUNOLOGY}, title = {Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic}, url = {https://www.hindawi.com/journals/crii/2020/8836685/}, volume = {2020}, year = {2020} }
TY - JOUR ID - 1734857 AU - Prucha, Miroslav - Grombiříková, Hana - Zdrahal, Pavel - Bloomfield, Marketa - Parackova, Zuzana - Freiberger, Tomáš PY - 2020 TI - Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic JF - CASE REPORTS IN IMMUNOLOGY VL - 2020 IS - DEC 2020 SP - 1-5 EP - 1-5 PB - HINDAWI LTD SN - 20906609 KW - Mendelian Susceptibility KW - Mycobacterial Disease UR - https://www.hindawi.com/journals/crii/2020/8836685/ L2 - https://www.hindawi.com/journals/crii/2020/8836685/ N2 - 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-gamma therapy was started at a dose of 200 mu 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. ER -
PRUCHA, Miroslav, Hana GROMBIŘÍKOVÁ, Pavel ZDRAHAL, Marketa BLOOMFIELD, Zuzana PARACKOVA and Tomáš FREIBERGER. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. \textit{CASE REPORTS IN IMMUNOLOGY}. LONDON: HINDAWI LTD, 2020, vol.~2020, DEC 2020, p.~1-5. ISSN~2090-6609. Available from: https://dx.doi.org/10.1155/2020/8836685.
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