This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Reprints and Permissions Copyright Information Books from ASM Press MicrobeWorld Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Ameratunga, R. Articles by Marbrook, J. Search for Related Content PubMed PubMed Citation Articles by Ameratunga, R. Articles by Marbrook, J.

 Previous Article  |  Next Article 

Clinical and Diagnostic Laboratory Immunology, Nov 1996, 722-726, Vol 3, No. 6
Copyright © 1996 by the American Society for Microbiology. All rights reserved.

Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand

R Ameratunga, J McKee, J French, R Prestidge, W Fanslow and J Marbrook
Department of Molecular Medicine, University of Auckland, New Zealand.

The X-linked hyper-immunoglobulin M syndrome (XHIM) is a primary immune deficiency disorder characterized by an inability to produce immunoglobulin isotypes other than immunoglobulin M (IgM) and IgD. Recently, a B-cell surface antigen (CD40) and its conjugate T-cell counterstructure (CD40 ligand) were shown to mediate immunoglobulin isotype switching in the presence of cytokines such as interleukin 4. Most patients with XHIM have been shown to have mutations of the extracellular domain of the CD40 ligand. Here we describe a novel point mutation of an intronic splice acceptor site which results in a complex splicing defect of the CD40 ligand in a patient with XHIM. In addition to two species of deleted transcripts, wild-type transcripts were also detected in this individual. The demonstration of wild-type CD40 ligand transcripts may be an explanation for previous observations suggesting that some XHIM patients are able to undergo immunoglobulin isotype switching in vivo.

This article has been cited by other articles:

• Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D., Pabst, H. F., Aruffo, A., Ochs, H. D. (1998). Mutations of the CD40 Ligand Gene and Its Effect on CD40 Ligand Expression in Patients With X-Linked Hyper IgM Syndrome. Blood 92: 2421-2434 [Abstract] [Full Text]  
• Ameratunga, R., Winkelstein, J. A., Brody, L., Binns, M., Cork, L. C., Colombani, P., Valle, D. (1998). Molecular Analysis of the Third Component of Canine Complement (C3) and Identification of the Mutation Responsible for Hereditary Canine C3 Deficiency. J. Immunol. 160: 2824-2830 [Abstract] [Full Text]  
• Su, L., Garber, E. A., Hsu, Y.-M. (2001). CD154 Variant Lacking Tumor Necrosis Factor Homologous Domain Inhibits Cell Surface Expression of Wild-type Protein. J. Biol. Chem. 276: 1673-1676 [Abstract] [Full Text]