儿科血液学和瘤学免疫的先天性错误:临床实践的诊断原则
Giulia Roberti1, Giulia Maestrini1, Beatrice Polito1
1Section of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
Journal of clinical medicine
|September 13, 2025
概括
在患有血液病症的患者中,识别先天性免疫错误 (IEI) 的警告标志至关重要. 对IEI的早期分子诊断可以通过向治疗和干细胞移植等治疗来改善预后.
科学领域:
- 免疫学 免疫学 免疫学
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
背景情况:
- 免疫失调是免疫天生的错误 (IEI) 的关键指标.
- 患有IEI的患者经常出现血液学表现,并且在非免疫学环境中进行管理.
- IEI的血液学症状包括自身免疫性细胞衰减,淋巴增殖性疾病,恶性瘤,血细胞性淋巴细胞性细胞瘤,骨髓衰竭,骨髓形综合征和eosinophilia.
研究的目的:
- 突出在患有血液学特征的患者中识别IEI警告标志的重要性.
- 引导临床医生在怀疑IEI时采取适当的诊断方法.
- 强调分子诊断对改善患者治疗结果的好处.
主要方法:
- 对与IEI相关的常见血液学症状的审查.
- 在不同的血液病状 (例如,自身免疫性细胞衰减,淋巴增殖性疾病,恶性瘤,HLH,MDS,BMF,eosinophilia) 中识别特定的红旗.
- 强调临床病史 (家庭,个人感染) 和特定的临床特征作为诊断线索.
主要成果:
- 存在两个或两个以上与IEI相关的血液学症状,家族病史呈阳性,或有严重感染的个人病史,需要进行临床预警.
- 对自身免疫性细胞衰退的IEI怀疑的具体指标包括治疗折射性和多系细胞衰退.
- 在淋巴增殖性疾病中,IEI的红旗包括慢性病程,EBV持久性和异常局部化;在恶性瘤中,罕见的瘤和综合征;在HLH中,缺乏明确的触发因素;在MDS/BMF中,单细胞减小,特定的细胞遗传学;在eosinophilia中,骨异常和器官巨变.
结论:
- 通过血液学预警信号早期识别IEI对于及时诊断和管理至关重要.
- 对IEI的分子诊断可以实现个性化的治疗策略,包括造血干细胞移植和基因疗法.
- 对评估血液病患者IEI的系统方法可以显著改善预后和患者的结果.
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