Cohen Jeffrey I, Niemela Julie E, Stoddard Jennifer L, Pittaluga Stefania, Heslop Helen, Jaffe Elaine S, Dowdell Kennichi
Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA,
J Clin Immunol. 2015 Jul;35(5):445-8. doi: 10.1007/s10875-015-0168-y. Epub 2015 May 7.
Severe chronic active Epstein-Barr virus (CAEBV) disease is defined as a severe progressive illness lasting 6 months or longer with infiltration of tissues with EBV-positive lymphocytes, markedly elevated levels of EBV DNA in the blood, and no known immunodeficiency such as HIV. These patients usually have fever, splenomegaly, lymphadenopathy, and may have markedly elevated EBV antibody titers to viral capsid antigen. Although the cause of most cases of severe CAEBV is unknown, one well-documented case was associated with compound heterozygous mutations in PRF1 (perforin 1). Here we report a patient with prolonged severe CAEBV who underwent bone marrow transplant for his disease and subsequently was found to have compound heterozygous mutations in STXBP2 (MUNC18-2) as well as a heterozygous mutation in PRF1 (perforin 1).
严重慢性活动性EB病毒（CAEBV）病被定义为一种严重的进行性疾病，持续6个月或更长时间，伴有EBV阳性淋巴细胞浸润组织、血液中EBV DNA水平显著升高，且不存在已知的免疫缺陷，如HIV。这些患者通常有发热、脾肿大、淋巴结病，并且可能对病毒衣壳抗原的EBV抗体滴度显著升高。尽管大多数严重CAEBV病例的病因尚不清楚，但有一个记录充分的病例与PRF1（穿孔素1）的复合杂合突变有关。在此，我们报告一名患有长期严重CAEBV的患者，他因该病接受了骨髓移植，随后被发现STXBP2（MUNC18-2）存在复合杂合突变以及PRF1（穿孔素1）存在杂合突变。
