一个中国儿童的CD3G同卵性致病变体,患有狼类疾病,自身免疫性甲状腺炎和免疫缺陷
Hongrong Lin1, Shuai Chu2, Cui Tang1
1Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, China.
概括
由CD3G基因变异引起的CD3γ缺乏症可以导致免疫缺陷和自身免疫. 这项研究报告了一起患有CD3γ缺乏症的儿童出现狼类疾病和增强的T和B细胞激活的新案例.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
背景情况:
- T细胞受体 (TCR) /CD3复合体对于T细胞功能和免疫调节至关重要.
- 导致CD3γ缺乏的CD3G基因突变很罕见,并且与自身免疫性疾病,免疫缺陷和感染有关.
- 此前,只有13例CD3G变异病例被记录在案.
研究的目的:
- 报告一个小儿病患者中CD3γ缺乏症的新病例.
- 研究CD3γ缺乏的临床和免疫特征.
- 探索CD3γ缺乏在单一性狼中所起的作用.
主要方法:
- 一个患有狼类疾病的10岁男孩的临床表现和免疫评估.
- 流细胞计分析T和B细胞群和激活标记物.
- 基于trio的全外因组测序来识别遗传变异.
主要成果:
- 该患者出现了狼类疾病,自身免疫性甲状腺炎,喘,免疫缺陷和复发性感染.
- 流细胞计显示CD3+和CD8+T细胞减少,T和B细胞活化增加.
- 全外体序列测定在CD3G基因中发现了一种同卵性致病变体 (c.213delA,p.Lys71fs).
结论:
- 这是第一个报告的CD3γ缺乏症患者,符合系统性红斑狼的标准.
- 在CD3γ缺乏症中增强的T和B细胞激活可能有助于自身免疫.
- 这一案例扩大了对CD3γ缺乏症及其与单一性狼相关性的理解.
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