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. 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.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
Authors PRUCHA, Miroslav (203 Czech Republic, guarantor), Hana GROMBIŘÍKOVÁ (203 Czech Republic, belonging to the institution), Pavel ZDRAHAL (203 Czech Republic), Marketa BLOOMFIELD (203 Czech Republic), Zuzana PARACKOVA and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution).
Edition CASE REPORTS IN IMMUNOLOGY, LONDON, HINDAWI LTD, 2020, 2090-6609.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30102 Immunology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
WWW URL
RIV identification code RIV/00216224:14110/20:00118045
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1155/2020/8836685
UT WoS 000607910700001
Keywords in English Mendelian Susceptibility; Mycobacterial Disease
Tags 14110114, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 28/1/2021 07:55.
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-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.
PrintDisplayed: 22/8/2024 12:18