噬血细胞性淋巴组织细胞增生症的诊断检测

Diagnostic testing for hemophagocytic lymphohistiocytosis.

作者信息

Marsh Rebecca A, Bleesing Jack J, Chiang Samuel Cern Cher

机构信息

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, United States; Pharming Healthcare, Warren, NJ, United States.

出版信息

J Immunol Methods. 2025 Feb;537:113816. doi: 10.1016/j.jim.2025.113816. Epub 2025 Jan 22.

DOI:10.1016/j.jim.2025.113816

PMID:39855542

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome caused by severe systemic hyperinflammation. HLH can be rapidly fatal if unrecognized or inadequately treated. It is important that clinicians are able to utilize diagnostic testing to assess for HLH and determine the underlying causes including possible inborn errors of immunity (IEI). This article summarizes many of the tools available to aid with the diagnostic evaluation of patients with possible HLH and underlying IEI.

摘要

噬血细胞性淋巴组织细胞增生症（HLH）是一种由严重全身性炎症引起的罕见临床综合征。若未被识别或治疗不当，HLH可能迅速致命。临床医生能够利用诊断检测来评估HLH并确定潜在病因，包括可能的先天性免疫缺陷（IEI），这一点很重要。本文总结了许多可用于辅助对可能患有HLH及潜在IEI的患者进行诊断评估的工具。