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 …

Analysis of mutations and recombination activity in RAG-deficient patients

E Asai, T Wada, Y Sakakibara, A Toga, T Toma… - Clinical …, 2011 - Elsevier
Mutations in the recombination activating genes (RAG1 or RAG2) can lead to a variety of
immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of …

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

H IJspeert, GJ Driessen, MJ Moorhouse… - Journal of allergy and …, 2014 - Elsevier
Background V (D) J recombination takes place during lymphocyte development to generate
a large repertoire of T-and B-cell receptors. Mutations in recombination-activating gene 1 …

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

YN Lee, F Frugoni, K Dobbs, JE Walter, S Giliani… - Journal of allergy and …, 2014 - Elsevier
Background The recombination-activating gene (RAG) 1/2 proteins play a critical role in the
development of T and B cells by initiating the VDJ recombination process that leads to …

Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency

N Kutukculer, N Gulez, NE Karaca, G Aksu… - Italian journal of …, 2012 - Springer
Background Severe combined immunodeficiency is within a heterogeneous group of
inherited defects throughout the development of T-and/or B-lymphocytes. Mutations in …

Recombinase‐activating gene 1 immunodeficiency: different immunological phenotypes in three siblings

S Pasic, S Djuricic, G Ristic, B Slavkovic - Acta paediatrica, 2009 - Wiley Online Library
We report different immunological phenotypes in three siblings from consanguineous family
with recombinase‐activating gene 1 (RAG1) gene mutations. Null mutations of RAG genes …

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 …

V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations

A Villa, C Sobacchi, LD Notarangelo… - Blood, The Journal …, 2001 - ashpublications.org
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of primary
immunodeficiencies, a proportion of which are due to mutations in either of the 2 …

RAG gene defects at the verge of immunodeficiency and immune dysregulation

A Villa, LD Notarangelo - Immunological reviews, 2019 - Wiley Online Library
Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum
of clinical and immunological phenotypes that reflect different degrees of impairment of T …

[HTML][HTML] Recent advances in understanding RAG deficiencies

A Gennery - F1000Research, 2019 - ncbi.nlm.nih.gov
Abstract Recombination-activating genes (RAG) 1 and RAG2 initiate the molecular
processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense …