Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome

John E. Duplantier, Kuniaki Seyama, Noorbibi K. Day, Remi Hitchcock, Robert P. Nelson, Hans D. Ochs, Soichi Haraguchi, Martin R. Klemperer, Robert A. Good

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

X-linked hyper IgM syndrome (XHIM), caused by mutations of the CD40 ligand (CD4OL) gene, is characterized by recurrent bacterial and opportunistic infections, an increased incidence of autoimmunlty and malignancies, and immunodeficiency due to abnormal T/B cell interaction. Because of poor long-term prognosis, bone marrow transplantation (BMT) has been proposed as an alternative treatment. An 8-month-old boy with XHIM and a splice site mutation of CD40L underwent BMT using a fully matched sibling donor. Markers of engraftment and immunologic reconstitution were measured serially. After BMT, activated T cells expressed functional CD40L, and genomic DNA obtained from circulating white cells contained predominantly wild-type CD40L sequences. Serum immunoglobulin levels including IgE and antibody responses to recall antigens normalized, and immunization with the T-cell-dependent neoantigen, bacteriophage φX174, demonstrated amplification of the response and isotope switching. BMT provides a permanent cure for XHIM if a fully matched sibling donor is available and the procedure is performed before complications have occurred.

Original languageEnglish (US)
Pages (from-to)313-318
Number of pages6
JournalClinical Immunology
Volume98
Issue number3
DOIs
StatePublished - Jan 1 2001

Keywords

  • Bone marrow transplantation
  • CD40 ligand mutation(s)
  • Engraftment
  • High IgM, low IgG, and IgA
  • Immunization
  • Immunodeficiency disease
  • T and B cells
  • X-linked hyper IgM syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Fingerprint Dive into the research topics of 'Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome'. Together they form a unique fingerprint.

  • Cite this

    Duplantier, J. E., Seyama, K., Day, N. K., Hitchcock, R., Nelson, R. P., Ochs, H. D., Haraguchi, S., Klemperer, M. R., & Good, R. A. (2001). Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome. Clinical Immunology, 98(3), 313-318. https://doi.org/10.1006/clim.2000.4994