Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
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 |
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most patients (34.9%) were classified as having T-B-NK+ SCID and had a mutation in the RAG2 or RAG1 gene.
|
28266921 |
2019 |
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four novel mutations were reported in the T<sup>-</sup> B<sup>-</sup> SCID group; three in RAG1 (A565P, N591Pfs*14 and K621E) and one in RAG2 (F29S).
|
30307608 |
2019 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, <i>Rag2/IL2rg</i><sup>-/-</sup> knockout mice possessed features of severe combined immunodeficiency (SCID), which is an ideal model for human xenograft.
|
31134127 |
2019 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report.
|
30105620 |
2018 |
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA.
|
28552805 |
2017 |
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
|
27484032 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Increased and prolonged human norovirus infection in RAG2/IL2RG deficient gnotobiotic pigs with severe combined immunodeficiency.
|
27118081 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
From 2007 to 2014, 14 sibling-fetuses receiving a prenatal diagnosis born to four mothers with WAS, three with X-CGD, and one each with IPEX, XLA and severe combined immunodeficiency [RAG2-SCID] were recruited.
|
26856578 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS).
|
26476733 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Generation and characterization of RAG2 knockout pigs as animal model for severe combined immunodeficiency.
|
27496741 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
CNS germinoma tumor cells from five pediatric patients were directly implanted into the brains of Rag2/severe combined immune deficiency mice.
|
26956263 |
2016 |
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
|
25869295 |
2015 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of function mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause a T-B-NK+ type of severe combined immunodeficiency.
|
26186701 |
2015 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Engraftment of human iPS cells and allogeneic porcine cells into pigs with inactivated RAG2 and accompanying severe combined immunodeficiency.
|
24799706 |
2014 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report a RAG2-deficient patient with severe combined immunodeficiency and hemophagocytic bone marrow aplasia with plasma cells after a nonconditioned transplantation from a fully matched sibling.
|
23389499 |
2013 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because of the profoundly depleted baseline T and B cell immunity in recombination activating gene 2 (RAG-2)-deficient severe combined immunodeficiency (SCID) patients, some of these factors are eliminated, and the immune recovery after BMT can then be clearly assessed.
|
22295088 |
2012 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
To address this hypothesis, we used three mouse strains (non-obese diabetic (NOD)/severe-combined immunodeficient (SCID) (N/S); NOD/SCID γ-chain(-/-) (NSG); and Rag2(-/-) γ-chain(-/-) (DKO)) and two humanization techniques (bone marrow liver thymus (BLT) and human CD34(+) cell bone marrow transplant of newborn mice (hu)) to generate four common types of humanized mice: N/S-BLT, NSG-BLT, NSG-hu, and DKO-hu mice.
|
22569301 |
2012 |
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 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
The infant was ultimately diagnosed with T(-)B(-)NK(+) (lacking both B and T lymphocytes and having primarily natural killer [NK] cells), recombinase-activating gene 2 (RAG2)-deficient severe combined immunodeficiency (SCID).
|
20603253 |
2010 |
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 |
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 |