Article
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Human genetics - 1 May 1997
Nonoyama S, Shimadzu M, Toru H, Seyama K, Nunoi H, Neubauer M, Yata J, Och H D
Abstract excerpt
X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency caused by a defective CD40 ligand. We identified mutations of the CD40 ligand gene in 13 unrelated Japanese XHIM patients. Of the four patients with missense mutations, one had a mutation within the transmembrane domain, and th...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- CD40 Antigens
- CD40 Ligand
- Codon
- Conserved Sequence
- DNA Transposable Elements
- Exons
- Humans
- Hypergammaglobulinemia
- Immunoglobulin A
- Immunoglobulin M
- Japan
- Male
- Membrane Glycoproteins
- Molecular Sequence Data
- Mutation