|
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Severe Combined Immunodeficiency
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Either RAG-1 or RAG-2 gene was not expressed in the B- SCID-derived cell lines.
|
8189068 |
1994 |
|
Severe Combined Immunodeficiency
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Both in humans and in animal models, mutations that abrogate expression of either the Rag1 or Rag2 proteins result in severe combined immune deficiency with a complete lack of circulating T and B cells due to an early block in lymphoid development.
|
10226883 |
1999 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A human SCID condition is also characterized by an absence of mature T and B lymphocytes and is associated with mutations in either RAG1- or RAG2-encoding genes.
|
10777560 |
2000 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The genetic and biochemical basis of Omenn syndrome.
|
11213808 |
2000 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Some patients with B-cell-negative severe combined immune deficiency (SCID) carry mutations in RAG-1 or RAG-2 that impair V(D)J recombination.
|
11359901 |
2001 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
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 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.
|
11971977 |
2002 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation analyses of polymerase chain reaction products of RAG1/RAG2 genes were performed in 14 cases (T-B- SCID = 6 and OS = 8).
|
15025726 |
2004 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In humans, most T(-)B(-) severe combined immunodeficiencies (SCID) have a defect in either the RAG1 or RAG2 gene, are not radiosensitive and do not show genome instability.
|
15770702 |
2005 |
|
Severe Combined Immunodeficiency
|
0.500 |
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 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
OS patients carry leaky mutations of recombination activating genes (RAG1 or RAG2) resulting in partial V(D)J recombination activity, whereas null mutations cause severe combined immunodeficiency with absence of mature T and B cells (T-B- SCID).
|
15845893 |
2005 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
|
17075247 |
2006 |
|
Severe Combined Immunodeficiency
|
0.500 |
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 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
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 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
|
17476358 |
2007 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
An immunodeficiency disease with RAG mutations and granulomas.
|
18463379 |
2008 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.
|
18768869 |
2008 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Laboratory studies confirmed the diagnosis of T-B-NK+ SCID and molecular studies revealed homozygous mutations in the RAG2 gene.
|
20128425 |
2009 |
|
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Amorphic mutations in RAG1 and RAG2 cause T(-)B(-)NK(+)SCID, whereas hypomorphic mutations cause an immunodeficency characterized by oligoclonal expansion of TCRgammadelta T cells, severe CMV infection and autoimmunity.
|
19458910 |
2009 |
|
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
|
20956421 |
2010 |
|
Severe Combined Immunodeficiency
|
0.500 |
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 |