An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection
An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection
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一名 18 岁男性，患有 X 连锁淋巴增殖综合征 1 型，在原发性 Epstein-Barr 病毒感染 6 个月后患上原发性中枢神经系统淋巴瘤
DOI：
10.1097/mph.0000000000001424
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
et al.
中科院分区：
文献类型：
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作者：
Kusano N;Sakata N;Sugimoto K;et al.
X连锁淋巴组织增生综合征1型（XLP1）是一种罕见的先天性免疫缺陷病。我们报告的情况下，18岁的男性谁开发的噬血细胞性淋巴组织细胞增生症（HLH）与神经系统并发症后，原发性EB病毒（EBV）感染，随后发展成EBV相关的中枢神经系统淋巴瘤（CNSL）。由于易受EBV感染，他最终被诊断为XLP1，并接受了全脑照射沿着化疗和随后的来自SH2D1A野生型同胞供体的异基因造血干细胞移植。虽然CNSL的预后通常是令人沮丧的，但来自正常供体的免疫系统重建有助于患者保持30个月的缓解。
X-linked lymphoproliferative syndrome type 1 (XLP1) is a rare congenital immunodeficiency disease. We report the case of an 18-year-old male who developed hemophagocytic lymphohistiocytosis (HLH) with neurologic complications after primary Epstein-Barr virus (EBV) infection and subsequently developed EBV-related central nervous system lymphoma (CNSL). Given the vulnerability to EBV, he was finally diagnosed with XLP1 and treated with whole-brain irradiation along with chemotherapy and subsequent allogeneic hematopoietic stem cell transplantation from a SH2D1A wild-type sibling donor. Although the prognosis for CNSL is generally dismal, reconstitution of the immune system from a normal donor contributed to the patient remaining in remission for 30 months.