Article
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.
Clinical and diagnostic laboratory immunology - 1 Nov 1996
Ameratunga R, McKee J, French J, Prestidge R, Fanslow W, Marbrook J
Abstract excerpt
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)...
Topics
- Adolescent
- Alternative Splicing
- Base Sequence
- CD40 Ligand
- Exons
- Humans
- Hypergammaglobulinemia
- Immunoglobulin Class Switching
- Immunoglobulin M
- Introns
- Ligands
- Male
- Membrane Glycoproteins
- Molecular Sequence Data
- Mutation