B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency
B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency
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DOI：
10.1007/s10875-013-9907-0
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发表时间：
2013-08-01
影响因子：
9.1
通讯作者：
Holland, Steven M.
中科院分区：
文献类型：
--
作者：
Bax, Hannelore I.;Freeman, Alexandra F.;Holland, Steven M.
免疫抑制相关淋巴组织增生性疾病可能与原发性和获得性免疫疾病有关。干扰素γ受体（IFN-γ R）缺乏是一种罕见的原发性免疫疾病，其特征是对分枝杆菌感染的易感性增加。在这里，我们报告的第一例爱泼斯坦巴尔病毒（EBV）相关的B细胞淋巴瘤的患者完全IFN-γ R1缺乏症。该患者是一名20岁男性，IFNGR 1纯合型22 Cdel导致IFN-γ R1表面表达完全缺失，体外对IFN-γ完全缺乏反应性。他患有难治性播散性鸟分枝杆菌复合体和分枝杆菌感染。在18岁时，他出现了新的尖峰热和体重减轻，这是由于EB病毒阳性B细胞非霍奇金淋巴瘤。两年后，他死于进行性淋巴瘤。IFN-γ在肿瘤保护和排斥中起重要作用。IFN-γ R缺乏和其他免疫缺陷易患分枝杆菌病的患者似乎有恶性肿瘤的风险增加，特别是那些与病毒感染有关的患者。随着越来越多的这些患者在早期感染中幸存下来，癌症意识和肿瘤监测可能需要成为管理的一个更常规的部分。
Immunosuppression-associated lymphoproliferative disorders can be related to primary as well as acquired immune disorders. Interferon gamma receptor (IFN-gamma R) deficiency is a rare primary immune disorder, characterized by increased susceptibility to mycobacterial infections. Here we report the first case of an Epstein Barr Virus (EBV) related B-cell lymphoma in a patient with complete IFN-gamma R1 deficiency. The patient was a 20-year-old man with homozygous 22Cdel in IFNGR1 resulting in complete absence of IFN-gamma R1 surface expression and complete lack of responsiveness to IFN-gamma in vitro. He had disseminated refractory Mycobacterium avium complex and Mycobacterium abscessus infections. At age 18 he presented with new spiking fever and weight loss that was due to an EBV-positive B-cell non-Hodgkin lymphoma. Two years later he died of progressive lymphoma. IFN-gamma plays an important role in tumor protection and rejection. Patients with IFN-gamma R deficiencies and other immune deficits predisposing to mycobacterial disease seem to have an increased risk of malignancies, especially those related to viral infections. As more of these patients survive their early infections, cancer awareness and tumor surveillance may need to become a more routine part of management.