Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Pediatrics, Graduate School of Health Sciences, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
Transpl Infect Dis. 2020 Oct;22(5):e13331. doi: 10.1111/tid.13331. Epub 2020 Jun 8.
Human herpesvirus-6 (HHV-6) is a common pathogen affecting the human population. Primary HHV-6 infection generally occurs during infancy and causes exanthema subitum. Moreover, HHV-6 may exhibit inherited chromosomally integrated HHV-6 (iciHHV-6) in certain individuals. Although iciHHV-6 is generally known to be nonpathogenic, it may cause reactivation in patients with primary immunodeficiency disease (PID). XIAP deficiency is a rare PID characterized by recurrent hemophagocytic lymphohistiocytosis (HLH). It has been reported that the Epstein-Barr virus primarily causes HLH; however, the other pathogens, including HHV-6, can also cause this complication. We encountered a case of XIAP deficiency accompanied by iciHHV-6. He suffered from recurrent HLH, for which allogeneic bone marrow transplantation (BMT) was performed as a curative therapy. During the course of BMT, the patient experienced HLH three times, but there was no reactivation of endogenous HHV-6 from iciHHV-6. Finally, the patient achieved complete donor chimerism and a decline in HHV-6 DNA copy number in whole blood. This case report demonstrates no evidence of reactivation of iciHHV-6 during BMT in a patient with XIAP deficiency.
人类疱疹病毒-6（HHV-6）是一种常见的病原体，影响人类群体。HHV-6 的原发性感染通常发生在婴儿期，引起幼儿急疹。此外，HHV-6 在某些个体中可能表现为遗传性染色体整合 HHV-6（iciHHV-6）。尽管一般认为 iciHHV-6 是无致病性的，但它可能导致原发性免疫缺陷病（PID）患者的再激活。XIAP 缺陷是一种罕见的 PID，其特征是复发性噬血细胞性淋巴组织细胞增生症（HLH）。据报道，EB 病毒主要引起 HLH；然而，其他病原体，包括 HHV-6，也可能导致这种并发症。我们遇到了一例伴有 iciHHV-6 的 XIAP 缺陷病例。他患有复发性 HLH，为此进行了异基因骨髓移植（BMT）作为治疗方法。在 BMT 过程中，患者发生了 3 次 HLH，但来自 iciHHV-6 的内源性 HHV-6 没有再激活。最终，患者实现了完全供体嵌合和全血中 HHV-6 DNA 拷贝数的下降。本病例报告表明，在 XIAP 缺陷患者的 BMT 过程中，没有证据表明 iciHHV-6 的再激活。
