在患有真菌细菌性疾病的患者中,X相关的MCTS1缺乏的完整和部分形式
Qinhua Zhou1, Ivan Bagarić2,3,4, Fabian Komma4
1Department of Clinical Immunology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.
概括
与X相关的MCTS1缺陷导致孟德尔对真菌菌病 (MSMD) 的易感性. 这项研究确定了新的遗传变异,并扩大了对患有菌根菌感染的患者中MCTS1缺乏症的理解.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 传染性疾病 传染性疾病
背景情况:
- 门德尔对真菌菌病 (MSMD) 的敏感性可能是由X链接的衰退性 (XR) MCTS1缺乏引起的.
- 患有MSMD的患者经常出现细菌卡尔梅特 - 格林 (BCG) 疾病或其他真菌细菌感染.
研究的目的:
- 在四个新家族中调查MCTS1缺陷的基因型和表型谱.
- 为了识别与MSMD相关的新型MCTS1变异.
主要方法:
- 整体外体序列测序是在四个不相关家族的探针上进行的.
- 确定了MCTS1中的遗传变异,并将其描述为表达丧失 (LOE),功能丧失 (LOF) 或低形态.
主要成果:
- 确定了四名患有MSMD和MCTS1缺乏症的新患者,其中包括三名具有新型基因型的患者.
- 三名患者对BCG疫苗出现了不良反应;一名未接种疫苗的患者患有Mycobacterium疹感染.
- 确定了三种新的MCTS1变种:p.L170* (LOF),E60Kfs5* (LOF) 和p.W175* (低形态).
结论:
- 在患有MSMD和真菌细菌感染的男性中,应考虑完全或部分X相关的MCTS1缺乏症.
- 这项研究扩展了已知的MCTS1缺陷的遗传和临床情景,有助于更好地了解MSMD.
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