Severe Combined Immunodeficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Pathogenic variants that severely impair recombinase activity of RAG1/2 determine a severe combined immunodeficiency (SCID) phenotype, whereas hypomorphic variants result in leaky (partial) SCID and other immunodeficiencies.
|
31058115 |
2019 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder.
|
31520268 |
2019 |
Severe Combined Immunodeficiency
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we describe the use of VSTs in an infant with RAG1 SCID who had developed disseminated adenovirus which failed to improve on cidofovir.
|
29753156 |
2018 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thirty-nine patients with a diagnosis of IL7Rα SCID (17 patients), Artemis SCID (8 patients) and RAG1/2 SCID (13 patients) had undergone HSCT with median age at last follow up for IL7Rα SCID, 14 years (range 4-27) and Artemis and RAG1/2 SCID, 10 years (range 2-18).
|
30105620 |
2018 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Human islets were isolated and transplanted into either severe combined immunodeficiency (SCID) or recombination-activating gene 1 (RAG-1) immunodeficient recipient mice.
|
28735354 |
2017 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel missense mutation (c. 307C > T/p.H103Y) in the RAG1 gene in a patient with leaky SCID.
|
28552805 |
2017 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data show that mutation c.256_257delAA in RAG1 gene seems to occur quite frequently in the polish patients with severe combined immunodeficiency and may result in classical OS as well as in severe combined immunodeficiency without clinical and laboratory features of OS when occurred in homozygous state.
|
28083621 |
2016 |
Severe Combined Immunodeficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
|
27484032 |
2016 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75 % for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2).
|
27539235 |
2016 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
RAG1-mutants from severe combined immunodeficient (SCID) patient cells showed a failure to sustain progression beyond the CD3(--)CD4(-)CD8(-)CD7(+)CD5(+)CD38(-)CD31(-/lo)CD45RA(+) stage of T-cell development to reach the CD3(-/+)CD4(+)CD8(+)CD7(+)CD5(+)CD38(+)CD31(+)CD45RA(-) stage.
|
27301863 |
2016 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The distribution of RAG1 mutations rather than mutation type seemed to differ between SCID and OS patients.
|
26476733 |
2016 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death.
|
25869295 |
2015 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Herein, we reported 4 patients with RAG1 deficiency: classic SCID was seen in two patients who presented with recurrent pneumonia and chronic diarrhoea, and failure to thrive.
|
26689875 |
2015 |
Severe Combined Immunodeficiency
|
0.700 |
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
|
0.700 |
GeneticVariation
|
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
This is the first description of the co-existence of large amounts of clonal expanded autologous and transplacental-acquired maternal T cells in RAG1-deficient SCID.
|
24666246 |
2014 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
We sought to develop lentiviral gene therapy for RAG1-induced SCID and to test its safety.
|
24332219 |
2014 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
RGD |
Zinc-finger nuclease mediated disruption of Rag1 in the LEW/Ztm rat.
|
23136839 |
2012 |
Severe Combined Immunodeficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
This is the first report of a RAG1 deficient patient with a changed clinical and immunological phenotype from SCID to OS after HSCT.
|
22882342 |
2012 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Severe combined immunodeficiency (SCID) patients with an inactivating mutation in recombination activation gene 1 (RAG1) lack B and T cells due to the inability to rearrange immunoglobulin (Ig) and T-cell receptor (TCR) genes.
|
21617701 |
2011 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have studied a mut/mut mouse model of leaky SCID with a homozygous Rag1 S723C mutation that impairs, but does not abrogate, V(D)J recombination activity.
|
20547827 |
2010 |
Severe Combined Immunodeficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
|
20956421 |
2010 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that the novel R776W missense mutation in RAG-1 is causal in the T(-)B(-)NK(+) SCID phenotype in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
|
18701881 |
2009 |
Severe Combined Immunodeficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human RAG1 gene cause severe combined immunodeficiency (SCID).
|
19584299 |
2009 |