一名霍奇金淋巴瘤幸存者的晚发性家族性嗜血细胞淋巴组织细胞增多症

IF 0.7 Q4 HEMATOLOGY Leukemia Research Reports Pub Date : 2024-01-01 DOI:10.1016/j.lrr.2023.100394

Mirza Rameez Samar, Daania Shoaib, Nida e Zehra, Munira Moosajee

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摘要

嗜血细胞淋巴组织细胞增多症是一种导致免疫系统过度激活的炎症。这种病可以是散发性的，也可以是家族性的。家族性亚型与各种基因突变有关，通常是年轻人的疾病。在此，我们报告了一例成人 HLH 病例，患者曾成功治疗过血液恶性肿瘤。经检查，他还发现了致病基因 STXBP2 突变，这表明 HLH 是家族性的。迄今为止，成人发病的家族性 HLH 病例寥寥无几。

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Late-onset Familial Hemophagocytic Lymphohistiocytosis in a survivor of Hodgkin's Lymphoma

Hemophagocytic Lymphohistiocytosis is an inflammatory condition which results in over activation of the immune system. It could be either sporadic or familial. The familial subtype is linked with various genetic mutations and is commonly a disease of the young. Here we report a case of HLH in an adult, occurring in the background of a successfully treated hematological malignancy. Upon workup, he was also found to have pathogenic STXBP2 mutation, suggesting HLH of familial origin. To date, only few cases of adult-onset familial HLH have been brought to light.

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