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CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
Immunology Today
|November 1, 1996
Insights
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency linked to CD40 ligand (CD40L) gene mutations. A new database, CD40Lbase, compiles these mutations from literature for better understanding of X-HIM.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- X-linked hyper-IgM syndrome (X-HIM) is a primary immunodeficiency disorder.
- It results from mutations in the CD40 ligand (CD40L) gene, crucial for immune cell interactions.
Purpose of the Study:
- To establish a comprehensive database (CD40Lbase) of CD40L mutations.
- To consolidate reported CD40L mutations from literature and the new database for analysis.
Main Methods:
- Database creation and curation of CD40L mutations.
- Literature review and data compilation.
Main Results:
- The CD40Lbase database has been established.
- Information from CD40Lbase and other literature sources is presented.
Conclusions:
- The compiled data provides a valuable resource for studying CD40L mutations.
- This resource aids in understanding the genetic basis of X-linked hyper-IgM syndrome.
Abstract:
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.