Yu Lang, Li Yulin, Li Wenhui, Zhang Yishi, He Wenli, Tang Xuemei, An Yunfei, Zhao Xiaodong
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Front Immunol. 2024 Nov 29;15:1474429. doi: 10.3389/fimmu.2024.1474429. eCollection 2024.
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 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 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.
许多先天性免疫缺陷可能伴随继发性噬血细胞性淋巴组织细胞增生症（HLH），这是一种通常以细胞毒性T细胞和NK细胞功能受损为特征的病症。相当一部分HLH病例也源于伴有吞噬功能障碍的慢性肉芽肿病。然而，严重先天性中性粒细胞减少症（SCN）或周期性中性粒细胞减少症（CyN）且吞噬细胞计数异常的患者发生继发性HLH的情况较少见报道。在此，我们报告一例患有与突变相关的CyN的儿科患者，该患者在严重细菌、真菌和病毒感染后发生了HLH。值得注意的观察结果包括NK细胞脱颗粒功能（CD107a）受损。据我们所知，这是首次记录到因突变导致的CyN患者发生HLH的病例。因此，我们的研究建立了ELANE相关的CyN与HLH之间的联系，强调了将HLH视为这些患者潜在并发症的重要性。
