Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation

P. R. Scholl, M. R.G. O'Gorman, L. M. Pachman, P. Haut, M. Kletzel

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.

Original languageEnglish (US)
Pages (from-to)1215-1218
Number of pages4
JournalBone marrow transplantation
Volume22
Issue number12
DOIs
StatePublished - Jan 1 1998

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Keywords

  • Bone marrow transplantation
  • Immunologic deficiency syndromes
  • Mutation
  • Neutropenia

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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