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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 a 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, roč.~2020, DEC 2020, s.~1-5. ISSN~2090-6609. doi:10.1155/2020/8836685. 2020.
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