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, Paul Haut, M. Kletzel

Research output: Contribution to journalArticle

29 Citations (Scopus)

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
StatePublished - 1998
Externally publishedYes

Fingerprint

Type 1 Hyper-IgM Immunodeficiency Syndrome
Agammaglobulinemia
CD40 Ligand
Homologous Transplantation
Neutropenia
Bone Marrow Transplantation
Immunoglobulin M
T-Lymphocytes
Immunoglobulin Class Switching
RNA Splicing
Mutation
Immunoglobulin Isotypes
Granulocyte Colony-Stimulating Factor
Humoral Immunity
Cellular Immunity
Siblings
Membrane Proteins
Tissue Donors
Genes
Proteins

Keywords

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

ASJC Scopus subject areas

  • Hematology
  • Transplantation

Cite this

Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. / Scholl, P. R.; O'Gorman, M. R G; Pachman, L. M.; Haut, Paul; Kletzel, M.

In: Bone Marrow Transplantation, Vol. 22, No. 12, 1998, p. 1215-1218.

Research output: Contribution to journalArticle

Scholl, P. R. ; O'Gorman, M. R G ; Pachman, L. M. ; Haut, Paul ; Kletzel, M. / Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. In: Bone Marrow Transplantation. 1998 ; Vol. 22, No. 12. pp. 1215-1218.
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