患有多个自身炎症疾病相关基因变异的患者的表型:重叠和混合自身炎症疾病
Shirkhan Amikishiyev1, Tuğba Kalaycı2, Rabia Deniz3
1Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University.
Rheumatology (Oxford, England)
|November 5, 2025
概括
许多患有全身性自身炎症性疾病 (SAID) 的患者有多种基因变异,并不总是导致明确的诊断. 对这些混合性自身炎症性疾病 (MAID) 的进一步研究对于了解患者的治疗结果至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 临床医学 临床医学
背景情况:
- 系统性自身炎症性疾病 (SAID) 的基因查经常会识别不确定的意义 (VUS) 或多种变异的变异,使诊断复杂化.
- 患者经常出现VUS和病原性变体的组合,需要进一步调查基因型-表型相关性.
研究的目的:
- 研究两种或多种自身炎症基因变异的患者的临床表型和基因型之间的关系.
- 探索SAID类症状中多个遗传变异所带来的诊断挑战.
主要方法:
- 对接受SAID遗传查的患者进行回顾性分析.
- 纳入标准:在≥2个自身炎症基因 (VUS和/或致病/可能致病) 中存在变异.
- 在不同的遗传特征中比较临床特征.
主要成果:
- 149名患者中有29.5%的患者具有≥2个自身炎症基因的变异.
- 诊断包括家族地中海热 (FMF),维克萨斯综合征,ADA2 (DADA2) 缺乏,A20哈普洛缺陷 (HA20),NLRP1-AID,NLRC4-AID,PFAPA类和贝赫特病类疾病.
- 27.2%的多种变异患者仍未被分类,突出显示了诊断复杂性.
结论:
- 自炎基因的多个变异在SAID类呈现中很常见,但并不总是与确定的诊断相关.
- 一组患有"混合自身炎症性疾病 (MAID) "的患者需要进一步的随访以评估临床过程和预后.
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