|
rs104894282
|
RAG1;RAG2
|
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894283
|
RAG1;RAG2
|
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894287
|
RAG1;RAG2
|
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894287
|
RAG1;RAG2
|
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
|
16276422 |
2005 |
|
rs104894287
|
RAG1;RAG2
|
T-lymphocyte immunodeficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the R841W mutation causes a malfunction of RAG1 that has differential outcome on V(D)J recombination in B and T cells, as the patient had normal B cell numbers but suffered severe alpha-beta T-cell immunodeficiency.
|
18592361 |
2008 |
|
rs104894287
|
RAG1;RAG2
|
Severe combined immunodeficiency, atypical
|
|
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 |
|
rs104894287
|
RAG1;RAG2
|
Severe Combined Immunodeficiency
|
|
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 |
|
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 |
|
rs104894288
|
RAG1;RAG2
|
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
|
16276422 |
2005 |
|
rs104894288
|
RAG1;RAG2
|
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
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
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs1064793251
|
RAG2;IFTAP
|
Primary immune deficiency disorder
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1204766339
|
RAG1;RAG2;IFTAP
|
Primary immune deficiency disorder
|
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 |
|
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 |
|
rs1204766339
|
RAG1;RAG2;IFTAP
|
Omenn Syndrome
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
|
26457731 |
2015 |
|
rs1204766339
|
RAG1;RAG2;IFTAP
|
Primary immune deficiency disorder
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
|
26457731 |
2015 |
|
rs121917894
|
RAG2;IFTAP
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
|
0.700 |
GeneticVariation |
UNIPROT |
RAG mutations in human B cell-negative SCID.
|
8810255 |
1996 |
|
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 |