Informace o publikaci
Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
| Autoři | |
|---|---|
| Rok publikování | 2020 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | CASE REPORTS IN IMMUNOLOGY |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | https://www.hindawi.com/journals/crii/2020/8836685/ |
| Doi | http://dx.doi.org/10.1155/2020/8836685 |
| Klíčová slova | Mendelian Susceptibility; Mycobacterial Disease |
| Popis | 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. |