[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 …
processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense …
Human RAG mutations: biochemistry and clinical implications
The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V (D) J
recombination process, which ultimately enables the generation of T cells and B cells with a …
recombination process, which ultimately enables the generation of T cells and B cells with a …
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 …
immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of …
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 …
of clinical and immunological phenotypes that reflect different degrees of impairment of T …
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches
M Bosticardo, F Pala… - European journal of …, 2021 - Wiley Online Library
The RAG1 and RAG2 proteins initiate the process of V (D) J recombination and therefore
play an essential role in adaptive immunity. While null mutations in the RAG genes cause …
play an essential role in adaptive immunity. While null mutations in the RAG genes cause …
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 large repertoire of T-and B-cell receptors. Mutations in recombination-activating gene 1 …
[HTML][HTML] RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant
E Westermann-Clark, A Grossi, F Fioredda… - Clinical Immunology …, 2018 - ncbi.nlm.nih.gov
Recombination activating genes 1 and 2 (RAG) proteins are involved in generating diversity
of T-and B-cell receptors via recombination of variable, diversity, and joining (VDJ) gene …
of T-and B-cell receptors via recombination of variable, diversity, and joining (VDJ) gene …
Characterization of T and B cell repertoire diversity in patients with RAG deficiency
Recombination-activating genes 1 and 2 (RAG1 and RAG2) play a critical role in T and B
cell development by initiating the recombination process that controls the expression of T …
cell development by initiating the recombination process that controls the expression of T …
A PHD finger motif in the C terminus of RAG2 modulates recombination activity
The RAG1 and RAG2 proteins catalyze V (D) J recombination and are essential for
generation of the diverse repertoire of antigen receptor genes and effective immune …
generation of the diverse repertoire of antigen receptor genes and effective immune …
RAG deficiency: two genes, many diseases
Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …