Mendelian Susceptibility to Mycobacterial Disease: The First
Case of a Diagnosed Adult Patient in the Czech Republic

J 2020

Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

PRUCHA, Miroslav, Hana GROMBIŘÍKOVÁ, Pavel ZDRAHAL, Marketa BLOOMFIELD, Zuzana PARACKOVA et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30102 Immunology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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.

Citovat

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.

@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.

Detailed Information on Publication Record