|
rs104894287
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1.
|
18592361 |
2008 |
|
rs121917894
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.040 |
GeneticVariation |
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 |
|
rs121917894
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS.
|
22723555 |
2012 |
|
rs121917894
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.040 |
GeneticVariation |
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 |
|
rs121917894
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.040 |
GeneticVariation |
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 |
|
rs1204766339
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
|
26457731 |
2015 |
|
rs36001797
|
RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
|
26186701 |
2015 |
|
rs36001797
|
RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Crystal structure of the V(D)J recombinase RAG1-RAG2.
|
25707801 |
2015 |
|
rs1204766339
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
G |
0.700 |
GeneticVariation |
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 |
|
rs148508754
|
RAG2;IFTAP
|
Omenn Syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
|
23243423 |
2012 |
|
rs150739647
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
|
21771083 |
2011 |
|
rs150739647
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
|
rs1564997121
|
RAG2;IFTAP
|
Omenn Syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
|
21771083 |
2011 |
|
rs762407838
|
RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of mutations and recombination activity in RAG-deficient patients.
|
21131235 |
2011 |
|
rs773710101
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of mutations and recombination activity in RAG-deficient patients.
|
21131235 |
2011 |
|
rs150739647
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
|
19912631 |
2009 |
|
rs1564995611
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Omenn syndrome due to mutation of the RAG2 gene.
|
19470080 |
2009 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
|
19912631 |
2009 |
|
rs148508754
|
RAG2;IFTAP
|
Omenn Syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RAG-dependent primary immunodeficiencies.
|
16960852 |
2006 |
|
rs754413772
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
G |
0.700 |
GeneticVariation |
CLINVAR |
RAG-dependent primary immunodeficiencies.
|
16960852 |
2006 |
|
rs148508754
|
RAG2;IFTAP
|
Omenn Syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
|
15025726 |
2004 |
|
rs36001797
|
RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
|
15025726 |
2004 |
|
rs1564995627
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
|
12200379 |
2002 |