Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review

Front Immunol. 2024 Jun 3:15:1391074. doi: 10.3389/fimmu.2024.1391074. eCollection 2024.

Abstract

Objectives: This study aims to discuss the clinical manifestations and treatment of Familial hemophagocytic lymphohistiocytosis (FHL) caused by a mutation in the UNC13D gene.

Methods: A 6-year-old female child presented with unexplained febricity, splenomegaly, pancytopenia, hemophagocytic lymphohistiocytosis in bone marrow, decreased NK cell activity, soluble CD25 levels > 44000ng/ml. Genetic sequencing revealed a mutation in the UNC13D gene. Additionally, the patient experienced intermittent fever with seizures characterized by involuntary twitching of the left upper limb. Head magnetic resonance imaging (MRI) showed white matter lesions.

Results: According to the HLH-2004 diagnostic criteria revised by the International Society of Histiocytosis the patient was diagnosed with FHL. Despite receiving HLH-2004 treatment, the disease relapsed. However, after a salvage allogeneic Hematopoietic Stem Cell Transplant (HSCT), febricity, abnormal blood cells, and neurological symptoms significantly improved.

Conclusions: Prompt performance of allogeneic HSCT is crucial upon diagnosis of FHL, especially when neurological involvement is present.

Keywords: UNC13D gene; cytokine storm; familial hemophagocytic lymphohistiocytosis (FHL); hematopoietic stem cell transplant (HSCT); white matter damage.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / etiology
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphohistiocytosis, Hemophagocytic* / therapy
  • Membrane Proteins / genetics
  • Mutation
  • Transplantation, Homologous*
  • Treatment Outcome

Substances

  • UNC13D protein, human
  • Membrane Proteins

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. WY was supported by: Natural Science Foundation of Hebei Province (Fund number H2021206167), Special Fund for High-quality Development of Health Talents and Public Hospitals supported by Hebei Provincial Government (Fund number 303–2022-27–27), geriatric disease Prevention and treatment Fund of Hebei Provincial Government (Found number 303–16-33–21).