V (D) J recombination: RAG proteins, repair factors, and regulation

M Gellert - Annual review of biochemistry, 2002 - annualreviews.org
▪ Abstract V (D) J recombination is the specialized DNA rearrangement used by cells of the
immune system to assemble immunoglobulin and T-cell receptor genes from the preexisting …

Role of recombination activating genes in the generation of antigen receptor diversity and beyond

M Nishana, SC Raghavan - Immunology, 2012 - Wiley Online Library
Summary V (D) J recombination is the process by which antibody and T‐cell receptor
diversity is attained. During this process, antigen receptor gene segments are cleaved and …

Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency

D Moshous, I Callebaut, R De Chasseval, B Corneo… - Cell, 2001 - cell.com
Abstract The V (D) J recombination process insures the somatic diversification of
immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a …

Metallo‐β‐lactamase fold within nucleic acids processing enzymes: the β‐CASP family

I Callebaut, D Moshous, JP Mornon… - Nucleic acids …, 2002 - academic.oup.com
A separate family of enzymes within the metallo‐β‐lactamase fold comprises several
important proteins acting on nucleic acid substrates, involved in DNA repair (Artemis, SNM1 …

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either TB–severe combined immune deficiency or Omenn …

B Corneo, D Moshous, T Güngör… - Blood, The Journal …, 2001 - ashpublications.org
Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B
cells and an infiltration of the skin and the intestine by activated oligoclonal T lymphocytes …

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

JP De Villartay, A Lim, H Al-Mousa… - The Journal of …, 2005 - Am Soc Clin Investig
Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been
reported to cause T–B–SCID, whereas hypomorphic mutations led to the expansion of a few …

RAG‐dependent primary immunodeficiencies

C Sobacchi, V Marrella, F Rucci, P Vezzoni… - Human …, 2006 - Wiley Online Library
Mutations in recombination activating genes 1 and 2 (RAG1 and RAG2) cause a spectrum of
severe immunodeficiencies ranging from classical T cell–B cell–severe combined …

More than just SCID—the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2

T Niehues, R Perez-Becker, C Schuetz - Clinical Immunology, 2010 - Elsevier
Combined immunodeficiencies with impaired numbers and function of T-and B-cells can be
attributed to defects in the recombinase activating genes (RAG). The products of these …

The RAG proteins in V (D) J recombination: more than just a nuclease

MJ Sadofsky - Nucleic acids research, 2001 - academic.oup.com
Abstract V (D) J recombination is the process that generates the diversity among T cell
receptors and is one of three mechanisms that contribute to the diversity of antibodies in the …

The mechanisms of immune diversification and their disorders

JP De Villartay, A Fischer, A Durandy - Nature Reviews Immunology, 2003 - nature.com
Three molecular mechanisms contribute to the diversity of the immune repertoire of B and T
cells: V (D) J recombination generates the primary repertoire in both cases, whereas class …