Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID
Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that
involve both humoral and cellular immunities. Defects in recombinating activating gene 1 …
involve both humoral and cellular immunities. Defects in recombinating activating gene 1 …
Combined immunodeficiency with late-onset progressive hypogammaglobulinemia and normal B cell count in a patient with RAG2 deficiency
MB Dorna, PFA Barbosa, A Rangel-Santos… - Frontiers in …, 2019 - frontiersin.org
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the
process of V (D) J recombination that leads to generation of the T and B cell repertoires …
process of V (D) J recombination that leads to generation of the T and B cell repertoires …
More than just SCID—the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2
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 …
attributed to defects in the recombinase activating genes (RAG). The products of these …
[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 …
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency
OM Delmonte, A Villa… - Blood, The Journal of the …, 2020 - ashpublications.org
Traditionally, primary immune deficiencies have been defined based on increased
susceptibility to recurrent and/or severe infections. However, immune dysregulation …
susceptibility to recurrent and/or severe infections. However, immune dysregulation …
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
H Abolhassani, N Wang, A Aghamohammadi… - Journal of allergy and …, 2014 - Elsevier
Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …
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 …
deficiency with varying clinical presentations. This study aimed to define the …
[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 …
From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
N Taghizadeh, S Mohammadi, H Abolhassani, S Shokri… - BMC pediatrics, 2024 - Springer
Abstract Background Severe combined immunodeficiencies (SCIDs) are hereditary
disorders characterized by impaired T and B cell function, resulting in significant immune …
disorders characterized by impaired T and B cell function, resulting in significant immune …
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two …
SO Lugo-Reyes, N Pastor, E González-Serrano… - Journal of clinical …, 2021 - Springer
Mutations in recombinase activating genes 1 and 2 (RAG1/2) result in human severe
combined immunodeficiency (SCID). The products of these genes are essential for V (D) J …
combined immunodeficiency (SCID). The products of these genes are essential for V (D) J …