一种罕见的突变导致自体主导的STAT1缺陷在南非多种类型的与传播的BCG感染相关的南非多种类型
Leonore Greybe1,2, Daniel Leung3, Nicole Wieselthaler4
1Paediatric Infectious Diseases Unit, Red Cross War Memorial Children's Hospital, Cape Town, South Africa. leonore.greybe@gmail.com.
BMC pediatrics
|July 29, 2023
概括
自体主导的STAT1缺陷是严重菌根性疾病的原因,在撒哈拉以南非洲的两个兄弟姐妹中被发现. 这凸显了调查该地区BCG并发症的必要性.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 传染性疾病 传染性疾病
背景情况:
- 自体主导信号传感器和转录1激活器 (STAT1) 缺陷是一种与孟德尔对真菌菌病 (MSMD) 敏感性相关的遗传疾病.
- 传播性Bacillus Calmette-Guérin (BCG) 感染是已知的STAT1缺乏症并发症,但在撒哈拉以南非洲 (SSA) 尚未报告病例.
研究的目的:
- 报告一种新的STAT1缺陷病例,在SSA中呈现出传播的BCG感染.
- 强调在该地区儿童患有BCG并发症时考虑MSMD的重要性.
主要方法:
- 两个半兄弟姐妹的临床表现和治疗多焦点骨髓炎由于传播的BCG感染.
- 整体外基因组测序以确定导致STAT1缺陷的遗传突变.
主要成果:
- 两个兄弟姐妹呈现多焦点骨髓炎作为传播BCG感染的主导特征,成功地用抗菌细菌疗法治疗.
- 整体外基因组测序揭示了STAT1基因 (NM_007315:c.1128-1G>A) 在受影响的兄弟姐妹和他们的母亲中出现了一种新的异质合体拼接位置换.
结论:
- 这是第一个关于自体主导STAT1缺陷导致SSA中传播的BCG感染的报告.
- 在SSA中经历BCG疫苗并发症的儿童需要对MSMD进行进一步的调查,包括对STAT1缺陷的基因测试.
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