Recombination activating gene and its defects
- 1 December 2001
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Allergy and Clinical Immunology
- Vol. 1 (6) , 491-495
- https://doi.org/10.1097/00130832-200112000-00001
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.Keywords
This publication has 37 references indexed in Scilit:
- The RAG Proteins and V(D)J Recombination: Complexes, Ends, and TranspositionAnnual Review of Immunology, 2000
- Regulation of RAG expression in developing lymphocytesCurrent Opinion in Immunology, 2000
- Coordinate Regulation of RAG1 and RAG2 by Cell Type-Specific DNA Elements 5' of RAG2Science, 1999
- RAG2:GFP Knockin Mice Reveal Novel Aspects of RAG2 Expression in Primary and Peripheral Lymphoid TissuesImmunity, 1999
- DNA Transposition by the RAG1 and RAG2 Proteins: A Possible Source of Oncogenic TranslocationsPublished by Elsevier ,1998
- Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune systemNature, 1998
- Neoteny in Lymphocytes: Rag1 and Rag2 Expression in Germinal Center B CellsScience, 1996
- RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangementCell, 1992
- RAG-1-deficient mice have no mature B and T lymphocytesCell, 1992
- Somatic generation of antibody diversityNature, 1983