Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
Joint Authors
Prucha, Miroslav
Grombirikova, Hana
Zdrahal, Pavel
Bloomfield, Marketa
Parackova, Zuzana
Freiberger, Tomas
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-21
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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 µg/m2 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.
American Psychological Association (APA)
Prucha, Miroslav& Grombirikova, Hana& Zdrahal, Pavel& Bloomfield, Marketa& Parackova, Zuzana& Freiberger, Tomas. 2020. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. Case Reports in Immunology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148010
Modern Language Association (MLA)
Prucha, Miroslav…[et al.]. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. Case Reports in Immunology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1148010
American Medical Association (AMA)
Prucha, Miroslav& Grombirikova, Hana& Zdrahal, Pavel& Bloomfield, Marketa& Parackova, Zuzana& Freiberger, Tomas. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. Case Reports in Immunology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148010
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148010