Prucha Miroslav, Grombirikova Hana, Zdrahal Pavel, Bloomfield Marketa, Parackova Zuzana, Freiberger Tomas
Department of Clinical Biochemistry, Hematology and Immunology, Na Homolce Hospital, Prague, Czech Republic.
Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Case Reports Immunol. 2020 Dec 19;2020:8836685. doi: 10.1155/2020/8836685. eCollection 2020.
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.
我们报告一例42岁患有孟德尔遗传性分枝杆菌病易感性的女性病例。该疾病在成年时被诊断，具有相对典型的临床表现；骨骼、关节和软组织受到非结核分枝杆菌、、和的影响。使用全外显子组测序检测到先前发表的位于基因中的功能缺失且经功能验证的杂合变异NM_000416.2:c.819_822delTAAT。在开始每周三次剂量为200μg/m的干扰素治疗后，临床有显著改善，需要继续基于大环内酯类的联合治疗方案。在过去4个月里，她一直在接受这种治疗，无需使用抗生素。
