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

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.

• Authors: 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
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 23 Issue 4 Pg. e13424 (06 2019) ISSN: 1399-3046 [Electronic] Denmark
• PMID: 31033123 (Publication Type: Case Reports)
• Copyright: © 2019 Wiley Periodicals, Inc.

Chemical References

• CD3 Complex
• HLA Antigens
• Phytohemagglutinins
• Concanavalin A
• Cyclosporine
• Methotrexate

Topics

• CD3 Complex (metabolism)
• CHARGE Syndrome (therapy)
• Cell Proliferation
• Concanavalin A (pharmacology)
• Cyclosporine (administration & dosage)
• DiGeorge Syndrome (complications, immunology)
• Diarrhea (therapy)
• Epstein-Barr Virus Infections (immunology, prevention & control)
• Fatal Outcome
• Graft vs Host Disease
• HLA Antigens (chemistry)
• Herpesvirus 4, Human (genetics)
• Humans
• Infant, Newborn
• Lymphocyte Transfusion
• Male
• Methotrexate (administration & dosage)
• Mutation
• Phenotype
• Phytohemagglutinins (chemistry)
• Siblings
• T-Lymphocytes (cytology)