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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

Kusano, Nobuyoshi MD, PhD*; Sakata, Naoki MD, PhD*; Sugimoto, Keisuke MD, PhD*; Miyazawa, Tomoki MD, PhD*; Ueda, Satoshi MD, PhD*; Okano, Munehiro MD, PhD*; Imadome, Ken-Ichi MD, PhD; Hoshino, Akihiro MD, PhD; Kanegane, Hirokazu MD, PhD; Kimura, Masatomo MD, PhD§; Sato, Takao MD, PhD§; Okada, Mitsuru MD, PhD*; Takemura, Tsukasa MD, PhD*

Journal of Pediatric Hematology/Oncology: January 22, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001424
Clinical and Laboratory Observations: PDF Only

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:

Received March 28, 2018

Accepted December 26, 2018

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