|
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.
|
15845893 |
2005 |
|
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 |
The fact that host B cells could produce antibodies in this patient could explain not only the mild phenotype observed but also, at least in part, how patients with Omenn syndrome produce immunoglobulin E and sometimes immunoglobulin M, as the same missense mutation of RAG1 gene has been reported in a patient with Omenn syndrome.
|
11520796 |
2001 |
|
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 |
We have recently experienced a rare case of OS showing the revertant mosaicism due to multiple second-site mutations leading to typical OS clinical features with RAG1-deficient SCID.
|
17075247 |
2006 |
|
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The patient carrying this 631delT RAG1 gene mutation died at the age of 5 weeks from an Omenn syndrome-like T(+)/B(- )severe combined immunodeficiency disease.
|
10891452 |
2000 |
|
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 |
The type of mutation of the RAG1 and RAG2 genes in patients with OS affects the degree of functioning variable (diversity) joining [V(D)J] recombination activity, which is critical to the development of lymphoid cell receptor diversity.
|
17176792 |
2007 |
|
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 |
Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVbeta family usage, and opportunistic infection.
|
17572155 |
2007 |
|
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Omenn syndrome with mutation in RAG1 gene.
|
19011808 |
2008 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Other RAG1 OS mutants tested do not manifest this sequence sensitivity.
|
18768869 |
2008 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The patient carried the homozygous hypomorphic R561H RAG1 mutation leading to reduced V(D)J recombination but lacked all clinical features characteristic of Omenn syndrome.
|
16211094 |
2005 |
|
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 |
Inherited mutations in either the recombination activating genes RAG1 or RAG2, resulting in partial V(D)J recombinase activity, were shown to be responsible for OS.
|
11313270 |
2001 |