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 language | English (US) |
---|---|
Pages (from-to) | 1215-1218 |
Number of pages | 4 |
Journal | Bone Marrow Transplantation |
Volume | 22 |
Issue number | 12 |
DOIs | |
State | Published - 1998 |
Keywords
- Bone marrow transplantation
- Immunologic deficiency syndromes
- Mutation
- Neutropenia
ASJC Scopus subject areas
- Hematology
- Transplantation