Case Report: HAVCR2 mutation-associated Hemophagocytic lymphohistiocytosis

Front Immunol. 2023 Nov 23:14:1271324. doi: 10.3389/fimmu.2023.1271324. eCollection 2023.

Abstract

Germline HAVCR2 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 HAVCR2 mutation can cause HLH even in the absence of lymphoma, though the exact mechanism remains unclear. In this article, we reported five cases of HAVCR2 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 HAVCR2 mutation based on changes in cytokine levels. Our findings suggest that HAVCR2 mutation may represent a distinct genetic defect underlying HLH, differing from traditional primary HLH.

Keywords: HAVCR2 mutation; cytokine; hemophagocytic lymphohistiocytosis; immunodeficiency; subcutaneous panniculitis-like T-cell lymphoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Germ-Line Mutation
  • Hepatitis A Virus Cellular Receptor 2 / genetics
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / complications
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphoma, T-Cell* / pathology
  • Mutation
  • Panniculitis* / pathology

Substances

  • HAVCR2 protein, human
  • Hepatitis A Virus Cellular Receptor 2

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by National Natural Science Foundation of China (82370185) and Key Scientific Project for Capital’s Health Development Research (2020–1–2022).