RAG mutations in severe combined immunodeficiency and Omenn's syndrome

Citation
K. Schwarz et A. Villa, RAG mutations in severe combined immunodeficiency and Omenn's syndrome, IMMUNOL ALL, 20(1), 2000, pp. 129
Citations number
80
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Immunology
Journal title
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
ISSN journal
0889-8561 → ACNP
Volume
20
Issue
1
Year of publication
2000
Database
ISI
SICI code
0889-8561(200002)20:1<129:RMISCI>2.0.ZU;2-#
Abstract
Recombinase-activating gene (RAG) proteins play a fundamental role in lymph oid development. As heterodimeric endonucleases, they initiate V (D) J reco mbination, a lymphocyte-specific process that assembles B- and T-cell antig en receptor genes from subgenic V, D, and J elements. Recently, the functio n of the RAG protein domains has been characterized better. A complete loss of RAG function causes SCID without B and T cells (B-T- SCID). Hypomorphic RAG alleles with residual V (D) J recombination function result in an immu nodeficiency with autoreactive manifestations (i.e., Omenn's syndrome).