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Article 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: , , and . A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in in a heterozygous state was detected using whole-exome sequencing. After interferon- therapy was started at a dose of 200 g/m 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769627 | PMC |
| http://dx.doi.org/10.1155/2020/8836685 | DOI Listing |
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