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 |
CLINVAR |
RAG-dependent primary immunodeficiencies.
|
16960852 |
2006 |
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 |
CausalMutation
|
disease |
CLINVAR |
We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.
|
9630231 |
1998 |
Omenn Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Omenn syndrome due to mutation of the RAG2 gene.
|
19470080 |
2009 |
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 |
GeneticVariation
|
disease |
UNIPROT |
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
|
11133745 |
2001 |
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 |
CausalMutation
|
disease |
CLINVAR |
Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.
|
11908269 |
2002 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
|
21664875 |
2011 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
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 |