CASE REPORT article
Front. Pediatr.
Sec. Pediatric Immunology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1635534
A Case of Hemophagocytic Lymphohistiocytosis Associated with NBAS Gene Variant and Epstein-Barr Virus (EBV) Infection
Provisionally accepted
- Gansu Provincial Maternal and Child Health Hospital, Lanzhou, China
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Hemophagocytic syndrome (HPS), also known as hemophagocytic lymphohistiocytosis (HLH), is a life-threatening disorder that can occur in both children and adults, closely associated with genetic factors and acquired immune dysregulation. This article presents a case report of HLH with NBAS gene mutation and chronic active Epstein-Barr virus (EBV) infection. Despite undergoing a series of aggressive treatments, the patient failed to achieve a favorable clinical response. The clinical course was complicated by hepatic injury, coagulopathy, progressive cytopenia in all three blood cell lineages, and significant elevation of serum ferritin, ultimately resulting in fatal outcome. Current research on genetic predisposing factors has identified 17 causative genes for HLH, including PRF1 and UNC13D. However, NBAS-related cases have been rarely reported. The discovery of additional potential pathogenic genes holds significant value for advancing diagnostic and therapeutic approaches in HLH management. Key words：Hemophagocytic Lymphohistiocytosis；Epstein-Barr Virus (EBV) Infection；NBAS Gene Variant Introduction HLH is a rare and highly fatal clinical disorder affecting both children and adults, characterized by persistent yet ineffective immune activation triggered by primary or secondary factors, leading to excessive systemic inflammatory responses. Clinical manifestations may include fever, hepatosplenomegaly, pancytopenia, coagulopathy, hypertriglyceridemia, elevated serum ferritin, and hemophagocytosis identified in bone marrow, spleen, or lymph node biopsies. The disease was first described in 1939 by Scott and Robb-Smith as "histiocytic medullary reticulosis"
Keywords: Hemophagocytic lymphohistiocytosis (HLH), Epstein-Barr virus (EBV) infection, NBAS Gene Variant, gene mutation, Bad prognosis
Received: 26 May 2025; Accepted: 15 Jul 2025.
Copyright: © 2025 Zhao, Chen and Yue. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xilong Chen, Gansu Provincial Maternal and Child Health Hospital, Lanzhou, China
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