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 neurological 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.
Departments of *Pediatrics
§Pathology, Kindai University Faculty of Medicine, Osaka
†Department of Advanced Medicine for Infections, National Center for Child Health and Development
‡Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Faculty of Medicine, Tokyo, Japan
The authors declare no conflict of interest.
Reprints: Nobuyoshi Kusano, MD, PhD, Department of Pediatrics, Kindai University Faculty of Medicine, 377-2 Onohigashi, Osakasayama-shi, Osaka-fu 589-8511, Japan (e-mail: email@example.com).
Received March 28, 2018
Accepted December 26, 2018