Article
[Molecular diagnosis of primary immunodeficiencies].
Allergologia et immunopathologia - 1 Jan 2000
García Rodríguez M C, López Granados E, Cambronero Martínez R, Ferreira Cerdán A, Fontán Casariego G
Abstract excerpt
Knowledge of the molecular defects responsible for some primary immunodeficiency diseases (PIDs) offers undoubted advantages in establishing a reliable diagnosis. Such knowledge would allow us not only to establish a prognosis but also to instigate the most appropriate therapy. After molecular diagnosis, some patients could benefit from gene therapy. However, apart from the diagnosis of the disease, molecular...
Topics
- Adult
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- CD40 Ligand
- DNA Mutational Analysis
- Databases, Factual
- Exons
- Female
- Fetal Diseases
- Genes, Dominant
- Genes, Recessive
- Genetic Carrier Screening
- Humans
- Hypergammaglobulinemia