title: Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.
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.
authors.affiliation: Children's Memorial Hospital, and Department of Pediatrics, Northwestern University Medical School, Chicago, IL, USA.
authors.forename: P R
authors.initials: PR
authors.lastname: Scholl
authors.forename: M R
authors.initials: MR
authors.lastname: O'Gorman
authors.forename: L M
authors.initials: LM
authors.lastname: Pachman
authors.forename: P
authors.initials: P
authors.lastname: Haut
authors.forename: M
authors.initials: M
authors.lastname: Kletzel
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D016026:Bone Marrow Transplantation; D023201:CD40 Ligand; D002648:Child; D006801:Humans; D007075:Immunoglobulin M / Q000276:immunology*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics / Q000276:immunology; D009154:Mutation; D009503:Neutropenia / Q000276:immunology / Q000628:therapy*; D014184:Transplantation, Homologous; D014960:X Chromosome
chemical_list: D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand