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CASE REPORT article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1474429
This article is part of the Research Topic New challenges in pediatric immunohematology View all articles

Case Report: A Cyclic Neutropenia Patient with ELANE Mutation Accompanied by Hemophagocytic Lymphohistiocytosis

Provisionally accepted
Lang Yu Lang Yu Yulin Li Yulin Li Wenhui Li Wenhui Li Yishi Zhang Yishi Zhang Wenli He Wenli He Xuemei Tang Xuemei Tang Yunfei An Yunfei An Xiaodong Zhao Xiaodong Zhao *
  • Children‘s Hospital of Chongqing Medical University, Chongqing, China

The final, formatted version of the article will be published soon.

    Many inborn errors of immunity may accompany secondary hemophagocytic lymphohistiocytosis (HLH), a condition typically characterized by impaired cytotoxic T and NK cell function. A considerable proportion of HLH cases also stem from chronic granulomatosis with phagocytic dysfunction. However, the development of secondary HLH in patients with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) with abnormal phagocytic cell counts has been less frequently reported. Herein, we present a case of a pediatric patient with ELANE mutation-associated CyN who developed HLH subsequent to severe bacterial, fungal, and viral infections. Notable observations included impaired NK cell degranulation function (CD107a). To the best of our knowledge, this represents the first documented instance of HLH in patients with CyN attributed to an ELANE mutation. Thus, our study establishes a link between ELANE-related CyN and HLH, underscoring the importance of considering HLH as a potential complication in these patients.

    Keywords: cyclic congenital neutropenia, CYN, SCN, hemophagocytic lymphohistiocytosis, HLH

    Received: 01 Aug 2024; Accepted: 08 Nov 2024.

    Copyright: © 2024 Yu, Li, Li, Zhang, He, Tang, An and Zhao. 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: Xiaodong Zhao, Children‘s Hospital of Chongqing Medical University, Chongqing, China

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