Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion

Sho Hosaka, Chie Kobayashi, Hirota Saito, Ayako Imai-Saito, Ryoko Suzuki, Atsushi Iwabuchi, Yoshiaki Kato, Takahiro Jimbo, Nobuyuki Watanabe, Masafumi Onodera, Ken Ichi Imadome, Kouji Masumoto, Toru Nanmoku, Takashi Fukushima, Kenjiro Kosaki, Ryo Sumazaki, Hidetoshi Takada

Research output: Contribution to journalArticlepeer-review

Abstract

CHARGE syndrome is a rare congenital malformation syndrome which may share symptoms with DiGeorge syndrome. Complete DiGeorge syndrome (cDGS) is a severe form of DiGeorge syndrome, characterized by a CD3+ T-cell count of <50/mm3 due to athymia, and is fatal without immunologic intervention. We performed peripheral blood lymphocyte transfusion (PBLT) from an HLA-identical sibling without pretransplant conditioning in a CHARGE/cDGS patient with a novel CHD7 splice site mutation. Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis, and neither acute nor chronic GVHD was observed. After PBLT, T-cell proliferative response to phytohemagglutinin and concanavalin A recovered, and intractable diarrhea improved. EBV infection, evidenced by a gradual increase in the viral genome copy number to a maximum of 2861 copies/μgDNA on day 42 after PBLT, resolved spontaneously. HLA A2402 restricted, EBV-specific CTLs were detected from peripheral blood on day 148, and EBV seroconversion was observed on day 181. Thus, EBV-specific immunity was successfully established by PBLT. Our results indicate that PBLT is a simple and effective therapy to reconstitute immune systems in CHARGE/DiGeorge syndrome.

Original languageEnglish
Article numbere13424
JournalPediatric Transplantation
Volume23
Issue number4
DOIs
Publication statusPublished - 2019 Jun

Keywords

  • CHARGE syndrome
  • CHD7 mutation
  • DiGeorge syndrome
  • Epstein-Barr virus
  • immune reconstitution
  • peripheral blood lymphocyte transfusion

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation

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