title: RAG mutations in human B cell-negative SCID.
abstract: Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B- SCID). Although several genetic causes are known for B+ SCID, the etiology of B- SCID has not been defined. Six of 14 B- SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both. This mutation resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease.
authors.affiliation: Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: G H
authors.initials: GH
authors.lastname: Gauss
authors.forename: L
authors.initials: L
authors.lastname: Ludwig
authors.forename: U
authors.initials: U
authors.lastname: Pannicke
authors.forename: Z
authors.initials: Z
authors.lastname: Li
authors.forename: D
authors.initials: D
authors.lastname: Lindner
authors.forename: W
authors.initials: W
authors.lastname: Friedrich
authors.forename: R A
authors.initials: RA
authors.lastname: Seger
authors.forename: T E
authors.initials: TE
authors.lastname: Hansen-Hagge
authors.forename: S
authors.initials: S
authors.lastname: Desiderio
authors.forename: M R
authors.initials: MR
authors.lastname: Lieber
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D002460:Cell Line; D003241:Consanguinity; D004268:DNA-Binding Proteins; D005260:Female; D005803:Genes, Immunoglobulin; D005808:Genes, Recessive; D018398:Homeodomain Proteins; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D011995:Recombination, Genetic; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D014162:Transfection
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D011506:Proteins; C499311:RAG2 protein, human; D011948:Receptors, Antigen, T-Cell; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein