■噬血细胞性淋巴组织细胞增生症(HLH)是一种罕见且危及生命的疾病,其特征是免疫稳态严重受损。虽然家族性HLH(FHL)是一个已知的原因,其他先天性免疫错误(IEI)与儿科HLH的关系仍未得到充分研究。
■本系统综述旨在评估临床特征,触发器,实验室数据,治疗,和儿科HLH患者的结果与IEI而非FHL(IEInotFHL),强调准确识别和管理的重要性。
■在PubMed,EMBASE,MEDLINE,和CochraneCentral.质量评估通过JBI标准进行。
■全面搜索产生了108条符合纳入标准的记录,涉及178名患者。根据IUIS2022分类,我们确定了46种不同的IEI。联合免疫缺陷,免疫失调,吞噬细胞缺陷是最常见的与HLH相关的IEI。在75%的案例中,HLH在IEI诊断之前,经常有严重感染史。触发反应了IEI组内的特定感染易感性。与FHL病例相比,肝脏和中枢神经系统受累较少。治疗方法和结果各不相同,由于长期随访数据有限,限制IEI组的治疗效果评估。
■包括免疫学,传染性,遗传方面在儿科HLH中是必不可少的。仅依靠FHL或EBV易感性疾病测试是不够的,不同的其他IEI可以有助于HLH。早期识别HLH作为潜在的警告信号可以指导及时的诊断研究,并促进量身定制的治疗干预措施以改善结果。
■https://www.crd.约克。AC.uk/prospro/display_record.php?RecordID=371425,PROSPERO,CRD42022371425。
Hemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by a severe impairment of the immune homeostasis. While Familial-HLH (FHL) is a known cause, the involvement of other Inborn Errors of Immunity (IEI) in pediatric-HLH remains understudied.
This systematic
review aimed to assess the clinical features, triggers, laboratory data, treatment, and outcomes of pediatric HLH patients with IEI other than FHL (IEInotFHL), emphasizing the importance of accurate identification and management.
A systematic search for studies meeting inclusion criteria was conducted in PubMed, EMBASE, MEDLINE, and Cochrane Central. Quality assessment was performed through JBI criteria.
A comprehensive search yielded 108 records meeting inclusion criteria, involving 178 patients. We identified 46 different IEI according to IUIS 2022 Classification. Combined immunodeficiencies, immune dysregulation disorders, and phagocyte defects were the IEI most frequently associated with HLH. In 75% of cases, HLH preceded the IEI diagnosis, often with an unrecognized history of severe infections. Triggers reflected the specific infection susceptibilities within IEI groups. Liver and central nervous system involvement were less common than in FHL cases. Treatment approaches and outcomes varied, with limited long-term follow-up data, limiting the assessment of therapeutic efficacy across IEI groups.
A comprehensive evaluation encompassing immunological, infectious, and genetic aspects is essential in pediatric-HLH. Relying solely on FHL or EBV susceptibility disorders tests is insufficient, as diverse other IEI can contribute to HLH. Early recognition of HLH as a potential warning sign can guide timely diagnostic investigations and facilitate tailored therapeutic interventions for improved outcomes.
https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=371425, PROSPERO, CRD42022371425.