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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
After the successful completion of the Human Genome Project, the Human Proteome Organization has recently officially launched a… Expand
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Highly Cited
2009
Highly Cited
2009
Thymocytes and thymic epithelial cell (TEC) cross-talk is crucial to preserve thymic architecture and function, including… Expand
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Review
2008
Review
2008
Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency… Expand
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Highly Cited
2008
Highly Cited
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… Expand
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Highly Cited
2007
Highly Cited
2007
Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes… Expand
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Highly Cited
2005
Highly Cited
2005
Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal… Expand
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Highly Cited
2005
Highly Cited
2005
Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly… Expand
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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… Expand
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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… Expand
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Highly Cited
1991
Highly Cited
1991
We report the immunological characteristics of five patients with Omenn's syndrome, a rare inherited immunodeficiency also known… Expand
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