Omenn Syndrome

Known as: Familial Reticuloendotheliosis, Reticuloendotheliosis, Familial, Reticuloendothelioses, Familial 
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1972-2018
051019722018

Papers overview

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2010
2010
BACKGROUND Omenn syndrome (OS) is an autosomal-recessive disorder characterized by severe immunodeficiency and T-cell-mediated… (More)
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2008
2008
2003;197:527-35. 5. Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, et al. Early diagnosis of ataxia-telangiectasia… (More)
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2007
2007
Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes… (More)
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2007
2007
Patients with Omenn syndrome (OS) have hypomorphic RAG mutations and develop varying manifestations of severe combined… (More)
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2006
2006
Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune… (More)
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Highly Cited
2005
Highly Cited
2005
Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly… (More)
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2005
2005
Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal… (More)
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Highly Cited
2001
Highly Cited
2001
Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin… (More)
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Highly Cited
1998
Highly Cited
1998
Genomic rearrangement of the antigen receptor loci is initiated by the two lymphoid-specific proteins Rag-1 and Rag-2. Null… (More)
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1991
1991
We report the immunological characteristics of five patients with Omenn's syndrome, a rare inherited immunodeficiency also known… (More)
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