|
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 |
|
rs121917894
|
RAG2;IFTAP
|
Eosinophilia
|
|
0.010 |
GeneticVariation |
BEFREE |
These Rag2(R229Q/R229Q) mice showed oligoclonal T cells, absence of circulating B cells, and peripheral eosinophilia.
|
17476358 |
2007 |
|
rs121917894
|
RAG2;IFTAP
|
Severe Combined Immunodeficiency
|
|
0.010 |
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
|
Eosinophilic disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
These Rag2(R229Q/R229Q) mice showed oligoclonal T cells, absence of circulating B cells, and peripheral eosinophilia.
|
17476358 |
2007 |
|
rs121917895
|
RAG2;IFTAP
|
Omenn Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Partial V(D)J recombination activity leads to Omenn syndrome.
|
9630231 |
1998 |
|
rs121917895
|
RAG2;IFTAP
|
Omenn Syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121917895
|
RAG2;IFTAP
|
Omenn Syndrome
|
C |
0.800 |
GeneticVariation |
CLINVAR |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs121917895
|
RAG2;IFTAP
|
Primary immune deficiency disorder
|
C |
0.700 |
GeneticVariation |
CLINVAR |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs121917895
|
RAG2;IFTAP
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
C |
0.700 |
GeneticVariation |
CLINVAR |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs121917896
|
RAG2;IFTAP
|
Omenn Syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121917896
|
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
|
C |
0.800 |
GeneticVariation |
CLINVAR |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs121917896
|
RAG2;IFTAP
|
Primary immune deficiency disorder
|
C |
0.700 |
GeneticVariation |
CLINVAR |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
|
rs121917897
|
RAG2;IFTAP
|
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121917897
|
RAG2;IFTAP
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
|
11313270 |
2001 |
|
rs121917897
|
RAG2;IFTAP
|
Primary immune deficiency disorder
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
|
11313270 |
2001 |
|
rs121917897
|
RAG2;IFTAP
|
Omenn Syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918569
|
RAG1;RAG2
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918569
|
RAG1;RAG2
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
|
0.800 |
GeneticVariation |
UNIPROT |
An immunodeficiency disease with RAG mutations and granulomas.
|
18463379 |
2008 |
|
rs121918570
|
RAG1;RAG2
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
|
0.700 |
GeneticVariation |
UNIPROT |
An immunodeficiency disease with RAG mutations and granulomas.
|
18463379 |
2008 |
|
rs121918572
|
RAG1;RAG2
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
|
18701881 |
2009 |
|
rs121918572
|
RAG1;RAG2
|
Combined Cellular And Humoral Immune Defects With Granulomas
|
T |
0.700 |
GeneticVariation |
CLINVAR |
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
|
17572155 |
2007 |
|
rs121918572
|
RAG1;RAG2
|
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918572
|
RAG1;RAG2
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
T |
0.700 |
GeneticVariation |
CLINVAR |
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
|
17572155 |
2007 |