在患有自身免疫性疾病的患者中怀疑免疫的先天性错误的红旗
Natalia Vélez1, Juliette De Ávila2, Jaime Cortés3
1Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Inmunología Clínica y Alergia Pediátrica, Fundación Hospital Pediátrico La Misericordia, Bogotá, D. C., Colombia.
Biomedica : revista del Instituto Nacional de Salud
|January 21, 2025
概括
免疫的先天性错误可以表现为自身免疫性疾病,如细胞衰老,狼和IBD. 识别临床红旗有助于这些单一性疾病的早期诊断.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 这是一种自身免疫力.
背景情况:
- 免疫的先天性错误 (IEI) 是导致免疫失调,自身免疫和感染的单一性疾病.
- 自身免疫性疾病如自身免疫性细胞衰竭,全身性红斑狼 (SLE) 和炎症性肠病 (IBD) 越来越多地被认为是IEI表型.
研究的目的:
- 在患有自身免疫性细胞衰竭,SLE和IBD的患者中,确定怀疑IEI的临床和实验室红旗.
- 促进早期诊断和为患有这些疾病的个体量身定制的治疗.
主要方法:
- 系统的文献审查遵循PRISMA指南.
- 根据严格的选择标准,包括36篇文章.
- 使用乔安娜·布里格斯研究所工具的方法质量评估.
主要成果:
- 自身免疫性细胞衰竭:红旗包括慢性/复发性/耐药性细胞衰竭,复发性感染,严重的传染性并发症和淋巴增殖.
- 系统性红斑狼:红旗包括早期发病 (<5岁),严重的器官干扰,寒病变和淋巴增殖.
- 炎症性肠道疾病:红旗包括早期发病 (<2年),耐治疗性,非典型发现和血缘关系.
结论:
- 自身免疫性疾病可以是IEI在儿童和成人患者的主要表现.
- 早期诊断单基性疾病使得个性化治疗,改善预后和遗传咨询成为可能.
- 识别特定的红旗对于在自身免疫疾病患者中及时诊断IEI至关重要.
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