Abstract |
X-linked hyper IgM syndrome (XHIM), caused by mutations of the CD40 ligand ( CD40L) gene, is characterized by recurrent bacterial and opportunistic infections, an increased incidence of autoimmunity 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.
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Authors | J E Duplantier, K Seyama, N K Day, R Hitchcock, R P Nelson Jr, H D Ochs, S Haraguchi, M R Klemperer, R A Good |
Journal | Clinical immunology (Orlando, Fla.)
(Clin Immunol)
Vol. 98
Issue 3
Pg. 313-8
(Mar 2001)
ISSN: 1521-6616 [Print] United States |
PMID | 11237554
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Copyright | Copyright 2001 Academic Press. |
Chemical References |
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Topics |
- Bone Marrow Transplantation
- CD40 Ligand
(analysis, genetics)
- Child, Preschool
- Dysgammaglobulinemia
(genetics, immunology, therapy)
- Genetic Linkage
- Humans
- Infant
- Male
- Mutation
- X Chromosome
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