Detection and treatment of mutations in a cd40 ligand gene

Details Detection and treatment of mutations in a cd40 ligand gene Detection and treatment of mutations in a cd40 ligand gene

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) A61K 35/12 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07K 14/705 (2006.01) C07K 19/00 (2006.01) C12N 15/85 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2153806

There is disclosed a method of detecting a mutation in a CD40 ligand gene, comprising isolating nucleic acid from an individual, selectively amplifying nucleic acid derived from the CD40 ligand gene, and analyzing the amplified nucleic acid to determine if there is a mutation (or mutations) in the CD40 ligand gene. The ability of a CD40 ligand protein expressed from the gene may be determined. Methods of treating a syndrome that results in elevated levels of serum IgM and diminished levels of all other isotypes of immunoglobulins are also disclosed. Also disclosed are non-human animals that lack functional CD40 ligand as a result of gene targeting technology.

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