Article
Somatic mutations in human Ig variable genes correlate with a partially functional CD40-ligand in the X-linked hyper-IgM syndrome.
Journal of immunology (Baltimore, Md. : 1950) - 15 Aug 1996
Razanajaona D, van Kooten C, Lebecque S, Bridon J M, Ho S, Smith S, Callard R, Banchereau J, Brière F
Abstract excerpt
X-linked hyper-IgM (HIGM-1) syndrome is a rare disorder resulting from mutations in the CD40-ligand (CD40L) gene. This defect is associated with normal or elevated serum levels of IgM, and with low to undetectable levels of serum IgG, IgA, and IgE. We analyzed the somatic mutation status in Ig V...
Topics
- B-Lymphocytes
- Base Sequence
- CD40 Ligand
- Child, Preschool
- Clone Cells
- DNA Mutational Analysis
- Genes, Immunoglobulin
- Humans
- Hypergammaglobulinemia
- Immunoglobulin Class Switching
- Immunoglobulin M
- Immunoglobulin Variable Region
- Infant
- Lymphocyte Cooperation