|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seven patients presented with OS and a novel RAG2 mutation (C419W) was documented in one patient.
|
30307608 |
2019 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While Rag2-R229Q mutation under some conditions may cause severe immunological and clinical phenotypes similar to human SCID or OS, R229Q mutation per se did not cause severe immunodeficiency in mice, suggesting that additional factors other than R229Q mutation are required to induce severe immunodeficiency.
|
30872621 |
2019 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lineage-negative cells from mice with OS were transduced with an LV encoding the human RAG2 gene and injected into irradiated recipients with OS.
|
29241731 |
2018 |
|
Omenn Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS).
|
26476733 |
2016 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Crystal structure of the V(D)J recombinase RAG1-RAG2.
|
25707801 |
2015 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include Omenn syndrome, early onset autoimmunity, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling common variable immunodeficiency.
|
26186701 |
2015 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
|
26457731 |
2015 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
|
26186701 |
2015 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
|
23243423 |
2012 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS.
|
22723555 |
2012 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
|
22841008 |
2012 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of mutations and recombination activity in RAG-deficient patients.
|
21131235 |
2011 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic Rag2(R229Q) knock-in mice, which recapitulate OS, revealed, beyond severe B cell developmental arrest, a normal or even enlarged compartment of immunoglobulin-secreting cells (ISC).
|
20547828 |
2010 |
|
Omenn Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we present a comparative study of a panel of mutations that were identified in the noncanonical plant homeodomain (PHD) of Rag2 in patients with SCID or OS.
|
20234091 |
2010 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Omenn syndrome due to mutation of the RAG2 gene.
|
19470080 |
2009 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The type of mutation of the RAG1 and RAG2 genes in patients with OS affects the degree of functioning variable (diversity) joining [V(D)J] recombination activity, which is critical to the development of lymphoid cell receptor diversity.
|
17176792 |
2007 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, Rag2(R229Q/R229Q) mice mimicked most symptoms of human OS; our findings support the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS.
|
17476358 |
2007 |
|
Omenn Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
In conclusion, Rag2(R229Q/R229Q) mice mimicked most symptoms of human OS; our findings support the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS.
|
17476358 |
2007 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RAG-dependent primary immunodeficiencies.
|
16960852 |
2006 |
|
Omenn Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the nucleases of recombination activating genes 1 and 2 (RAG1/RAG2) or Artemis were found in some, but not all, patients with Omenn syndrome.
|
16630949 |
2006 |
|
Omenn Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
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 immunodeficiency (T(-)B(-)SCID) and Omenn syndrome (OS) to an increasing number of peculiar cases.
|
16960852 |
2006 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 autoimmune T cell clones responsible for the Omenn syndrome phenotype.
|
16276422 |
2005 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in both of the recombination activating genes (RAG)1 and RAG2 can lead to either T-B-severe combined immune deficiency (SCID) or Omenn syndrome (OS), two diseases presenting with totally different clinical and laboratory manifestations.
|
15870023 |
2005 |
|
Omenn Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RAG1 or RAG2 can lead to a spectrum of disorders, ranging from typical (B-)(T-) severe combined immunodeficiency to Omenn's syndrome.
|
16061569 |
2005 |