RAG deficiency: two genes, many diseases

OM Delmonte, C Schuetz, LD Notarangelo - Journal of clinical immunology, 2018 - Springer
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 …

Autoimmunity as a continuum in primary immunodeficiency

JE Walter, IA Ayala, D Milojevic - Current opinion in pediatrics, 2019 - journals.lww.com
Autoimmunity as a continuum in primary immunodeficiency : Current Opinion in Pediatrics
Autoimmunity as a continuum in primary immunodeficiency : Current Opinion in Pediatrics Log …

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

K Csomos, B Ujhazi, P Blazso, JL Herrera… - Nature …, 2022 - nature.com
The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the
primary B cell receptor repertoire and pruning self-reactive clones via receptor editing in the …

[HTML][HTML] Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency

JR Farmer, Z Foldvari, B Ujhazi, SS De Ravin… - The Journal of Allergy …, 2019 - Elsevier
Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …

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 …

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

I Tirosh, Y Yamazaki, F Frugoni, FA Ververs… - Journal of Allergy and …, 2019 - Elsevier
Background Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated
with a broad range of clinical and immunologic phenotypes in human subjects. Objective …

[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 …

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole …

Z Alizadeh, MR Fazlollahi, M Mazinani… - Genes & …, 2023 - nature.com
Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune
system associated with life-threatening infections. Variations in SCID phenotypes, especially …

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre

B Karaatmaca, D Cagdas, S Esenboga… - Clinical and …, 2024 - academic.oup.com
Recombination activating genes (RAG) 1 and RAG2 deficiency leads to combined T/B-cell
deficiency with varying clinical presentations. This study aimed to define the …

Corticosteroids contribute to serious adverse events following live attenuated varicella vaccination and live attenuated zoster vaccination

NB Price, C Grose - Vaccines, 2021 - mdpi.com
Corticosteroids, when given in high dosages, have long been recognized as a risk factor for
severe infection with wild-type varicella-zoster virus in both children and adults. The goal of …