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.

Základní údaje

Originální název

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

Autoři

PRUCHA, Miroslav; Hana GROMBIŘÍKOVÁ; Pavel ZDRAHAL; Marketa BLOOMFIELD; Zuzana PARACKOVA a Tomáš FREIBERGER

Vydání

CASE REPORTS IN IMMUNOLOGY, LONDON, HINDAWI LTD, 2020, 2090-6609

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/20:00118045

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Mendelian Susceptibility; Mycobacterial Disease

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 1. 2021 07:55, Mgr. Tereza Miškechová

Anotace

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 a 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, roč. 2020, DEC 2020, s. 1-5. ISSN 2090-6609. Dostupné z: https://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 = {https://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, 2020, roč.~2020, DEC 2020, s.~1-5. ISSN~2090-6609. Dostupné z: https://doi.org/10.1155/2020/8836685.

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