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 (203 Česká republika, garant), Hana GROMBIŘÍKOVÁ (203 Česká republika, domácí), Pavel ZDRAHAL (203 Česká republika), Marketa BLOOMFIELD (203 Česká republika), Zuzana PARACKOVA a Tomáš FREIBERGER (203 Česká republika, domácí)

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

Kód RIV

RIV/00216224:14110/20:00118045

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1155/2020/8836685

UT WoS

000607910700001

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://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 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://dx.doi.org/10.1155/2020/8836685.

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