|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
|
19912631 |
2009 |
|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
|
10606976 |
2000 |
|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
rs104894290
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
|
21771083 |
2011 |
|
rs121917895
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
rs121917896
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
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 |
|
rs150739647
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
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 |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
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 |
|
rs150739647
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
|
10606976 |
2000 |
|
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 |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
|
10606976 |
2000 |
|
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 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
|
21771083 |
2011 |
|
rs199474691
|
RAG1;RAG2
|
Omenn Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
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 |
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 |
|
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 |
Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS.
|
22723555 |
2012 |
|
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 |