Omenn Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Therefore, the <i>RAG1-86nt</i> hamster reported herein (similar to the hypomorphic <i>RAG1</i> mutations in humans that cause Omenn syndrome), may provide a useful model for studying the pathogenesis of the specific RAG1-mutation-induced human immunodeficiency, the host immune response to adenovirus infection and other pathogens as well as for evaluation of cell and gene therapies for treatment of this subset of RAG1 mutation patients.
|
29734775 |
2018 |
Omenn Syndrome
|
0.800 |
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 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates that the most popular genetic abnormality in East Slavs children with Omenn syndrome is c.368-369delAA (p.K86fs118) in RAG1 gene, which may be connected with more favorable prognosis because 4/4 patients survived after hematopoietic stem cells transplantation.
|
26596586 |
2016 |
Omenn Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Despite residual mutant RAG1 recombination activity from an Omenn syndrome (OS) patient, similar impaired T-cell differentiation was observed, due to increased single-strand DNA breaks that likely occur due to heterodimers consisting of both an N-terminal truncated and a catalytically dead RAG1.
|
27301863 |
2016 |
Omenn Syndrome
|
0.800 |
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 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe an infant with Omenn syndrome with a previously unreported termination mutation (p.R142*) in Rag1 on one allele and a partially characterized substitution mutation (p.V779M) in a "core" region of the other Rag1 allele.
|
25849362 |
2015 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, a specific recombination-activating gene 1 variant protein with partial recombinant activity might produce Omenn syndrome or a common variable immunodeficiency phenotype.
|
25956014 |
2015 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
|
26457731 |
2015 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include Omenn syndrome, early onset autoimmunity, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling common variable immunodeficiency.
|
26186701 |
2015 |
Omenn Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results underline that further development is required for improved expression to successfully treat patients with RAG1-induced SCID while maintaining low vector copy numbers and minimizing potential risks, including autoimmune reactions resembling Omenn syndrome.
|
24332219 |
2014 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first case of true somatic reversion of a RAG1 mutation in a patient with OS.
|
24817258 |
2014 |
Omenn Syndrome
|
0.800 |
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 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
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 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of mutations and recombination activity in RAG-deficient patients.
|
21131235 |
2011 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
|
21771083 |
2011 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
Omenn Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
|
21664875 |
2011 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
Omenn Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
|
20956421 |
2010 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Omenn syndrome due to mutation of the RAG2 gene.
|
19470080 |
2009 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C.
|
19912631 |
2009 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C.
|
19912631 |
2009 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
|
19246248 |
2009 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
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 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Omenn syndrome with mutation in RAG1 gene.
|
19011808 |
2008 |