Recent advances in understanding RAG deficiencies

F1000Research
Andrew R Gennery

Abstract

Recombination-activating genes ( RAG) 1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in RAG genes are now recognized. The degree of residual protein function may permit some lymphocyte receptor formation, which confers a less-severe clinical phenotype. Many of the non-SCID phenotypes are associated with autoimmunity. New findings into the effect of mutations in RAG1/2 on the developing T- and B-lymphocyte receptor give insight into the development of autoimmunity. This article summarizes recent findings and places the genetic and molecular findings in a clinical context.

References

Apr 1, 1991·The Journal of Clinical Investigation·G de Saint-BasileA Fischer
May 1, 1994·Immunology Today·W van EwijkA Singer
Oct 4, 1996·Science·K SchwarzC R Bartram
Jul 1, 1997·Journal of Clinical Immunology·T O HarvilleR E Ware
Jul 17, 1998·The Journal of Clinical Investigation·F Rieux-LaucatJ P De Villartay
Sep 13, 2003·Immunological Reviews·Jason GillRichard Boyd
Feb 8, 2005·The Journal of Clinical Investigation·Patrizia CavadiniRaffaele Badolato
May 5, 2005·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Ilan DalalAmos Toren
Aug 23, 2005·Immunity·Mark S AndersonDiane Mathis
Oct 8, 2005·The Journal of Clinical Investigation·Stephan EhlPaul Fisch
Nov 9, 2005·The Journal of Clinical Investigation·Jean-Pierre de VillartayFrançoise Le Deist
Dec 8, 2006·Annual Review of Immunology·Albert BendelacLuc Teyton
May 4, 2007·The Journal of Immunology : Official Journal of the American Association of Immunologists·Asha B PillaiSamuel Strober
May 9, 2008·The New England Journal of Medicine·Catharina SchuetzTim Niehues
Apr 23, 2009·Journal of Internal Medicine·G A Holländer, P Peterson
Nov 26, 2009·Nature Reviews. Immunology·Ludger KleinBruno Kyewski
Jan 30, 2010·The Journal of Allergy and Clinical Immunology·Barbara CassaniRaffaele Badolato
Jun 16, 2010·The Journal of Experimental Medicine·Jolan E WalterLuigi D Notarangelo
Jun 16, 2010·The Journal of Experimental Medicine·Barbara CassaniAnna Villa
Aug 3, 2010·The Journal of Allergy and Clinical Immunology·Andrew R GenneryUNKNOWN European Society for Immunodeficiency
Jul 31, 2013·The Journal of Allergy and Clinical Immunology·Lauren A HendersonLuigi D Notarangelo
Dec 3, 2013·The Journal of Allergy and Clinical Immunology·Yu Nee LeeLuigi D Notarangelo
Dec 18, 2013·The Journal of Allergy and Clinical Immunology·Catharina SchuetzKlaus Schwarz
Jan 15, 2014·The Journal of Allergy and Clinical Immunology·Hanna IJspeertMirjam van der Burg
Jan 30, 2014·The Journal of Allergy and Clinical Immunology·Karin ChenJolan E Walter
Apr 1, 2014·The Journal of Allergy and Clinical Immunology·Beatriz E MarcianoSergio D Rosenzweig
May 13, 2014·Journal of Clinical Immunology·Elena CrestaniLuigi D Notarangelo
Jul 6, 2014·The Journal of Allergy and Clinical Immunology·Mona HedayatJanet Chou
Jul 6, 2014·The Journal of Allergy and Clinical Immunology·Hassan AbolhassaniLennart Hammarström

❮ Previous
Next ❯

Citations

Jul 18, 2020·Immunology and Cell Biology·Thomas S Watkins, John J Miles
Dec 16, 2019·Journal of Clinical Immunology·Noa Greenberg-KushnirTali Stauber
Aug 29, 2019·International Journal of Molecular Sciences·Baubak BajoghliNarges Aghaallaei
Jul 11, 2020·Current Allergy and Asthma Reports·Mary A Slatter, Andrew R Gennery
Mar 9, 2021·European Journal of Immunology·Marita BosticardoLuigi D Notarangelo
May 5, 2021·The Journal of Immunology : Official Journal of the American Association of Immunologists·Edward L Y ChenJuan Carlos Zúñiga-Pflücker

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

© 2022 Meta ULC. All rights reserved