title: Recombination activating gene and its defects.
abstract: Mutations in recombination activating genes cause a spectrum of severe immunodeficiencies ranging from T-B severe combined immunodeficiency to Omenn syndrome (a particular type of severe combined immunodeficiency presenting a T+ B- profile). Although environmental factors and genetic background could also contribute to the genesis of this pathological condition, a residual recombination activating gene activity allowing for a few recombinational events to occur, is the first determinant of this variability in the clinical picture.
authors.affiliation: Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate, Italy. villa@itba.mi.cnr.it
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: C
authors.initials: C
authors.lastname: Sobacchi
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
mesh_terms: D004254:DNA Nucleotidyltransferases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D016654:Genes, RAG-1; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D013577:Syndrome; D045567:VDJ Recombinases
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064655:V(D)J recombination activating protein 2; D004254:DNA Nucleotidyltransferases; D045567:VDJ Recombinases