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 journalArticle

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/mm 3 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
DOIs
Publication statusPublished - 2019 Jan 1

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Lymphocyte Transfusion
DiGeorge Syndrome
Epstein-Barr Virus Infections
Blood Transfusion
Immunity
CHARGE Syndrome
Human Herpesvirus 4
Graft vs Host Disease
T-Lymphocytes
Viral Genome
Phytohemagglutinins
Concanavalin A
Methotrexate
Cyclosporine
Siblings
Diarrhea
Immune System
Cell Count
Mutation

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

Cite this

Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion. / Hosaka, Sho; Kobayashi, Chie; Saito, Hirota; Imai-Saito, Ayako; Suzuki, Ryoko; Iwabuchi, Atsushi; Kato, Yoshiaki; Jimbo, Takahiro; Watanabe, Nobuyuki; Onodera, Masafumi; Imadome, Ken Ichi; Masumoto, Kouji; Nanmoku, Toru; Fukushima, Takashi; Kosaki, Kenjiro; Sumazaki, Ryo; Takada, Hidetoshi.

In: Pediatric Transplantation, 01.01.2019.

Research output: Contribution to journalArticle

Hosaka, S, Kobayashi, C, Saito, H, Imai-Saito, A, Suzuki, R, Iwabuchi, A, Kato, Y, Jimbo, T, Watanabe, N, Onodera, M, Imadome, KI, Masumoto, K, Nanmoku, T, Fukushima, T, Kosaki, K, Sumazaki, R & Takada, H 2019, 'Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion', Pediatric Transplantation. https://doi.org/10.1111/petr.13424
Hosaka, Sho ; Kobayashi, Chie ; Saito, Hirota ; Imai-Saito, Ayako ; Suzuki, Ryoko ; Iwabuchi, Atsushi ; Kato, Yoshiaki ; Jimbo, Takahiro ; Watanabe, Nobuyuki ; Onodera, Masafumi ; Imadome, Ken Ichi ; Masumoto, Kouji ; Nanmoku, Toru ; Fukushima, Takashi ; Kosaki, Kenjiro ; Sumazaki, Ryo ; Takada, Hidetoshi. / Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion. In: Pediatric Transplantation. 2019.
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