AUTHOR=Song Deli , Wang Jingshi , Zhang Jia , Hu Junxia , Wu Chaofan , Wang Zhao 

TITLE=Case Report: HAVCR2 mutation-associated Hemophagocytic lymphohistiocytosis

JOURNAL=Frontiers in Immunology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2023.1271324

DOI=10.3389/fimmu.2023.1271324

ISSN=1664-3224

ABSTRACT=<p>Germline <italic>HAVCR2</italic> mutation has been reported to be associated with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) leading to Hemophagocytic lymphohistiocytosis (HLH). Several studies have indicated that <italic>HAVCR2</italic> mutation can cause HLH even in the absence of lymphoma, though the exact mechanism remains unclear. In this article, we reported five cases of <italic>HAVCR2</italic> mutation-associated HLH. Our analysis revealed an elevated level of IL-1RA in the serum of these patients. Furthermore, we investigated the potential mechanisms underlying HLH associated with <italic>HAVCR2</italic> mutation based on changes in cytokine levels. Our findings suggest that <italic>HAVCR2</italic> mutation may represent a distinct genetic defect underlying HLH, differing from traditional primary HLH.</p>