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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… 
National Institutes of Health

Related topics

Related topics

17 relations
AlopeciaAnemiaAutosomal recessive inheritanceDCLRE1C gene

Narrower (1)

Histiocytic medullary reticulosis (disorder)

Broader (1)

Severe Combined Immunodeficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Inhibition of human B-cell development into plasmablasts by histone deacetylase inhibitor valproic acid.
Review
2011
Review
2011
Omenn syndrome does not live by V(D)J recombination alone
Purpose of review During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the… 
2007
2007
Biochemical and Folding Defects in a RAG1 Variant Associated with Omenn Syndrome1
The RAG1 and RAG2 proteins are required to assemble mature Ag receptor genes in developing lymphocytes. Hypomorphic mutations in… 
2005
2005
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome
Abstract:  Omenn syndrome is a variant form of severe combined immunodeficiency. It is fatal unless treated by allogeneic stem… 
2003
2003
Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis.
2000
2000
Prenatal diagnosis of RAG‐deficient Omenn syndrome
Mutations in recombination activating genes (RAG) 1 and 2 have been found to cause Omenn syndrome (OS), a severe combined… 
Review
1999
Review
1999
RAG and RAG defects.
1995
1995
Mismatched bone marrow transplantation for Omenn syndrome: a variant of severe combined immunodeficiency.
Omenn syndrome is a variant of SCID, inherited as an autosomal recessive disorder, and characterized by severe eczematoid… 
1994
1994
Expansion of CD3+ CD4− CD8− T cell population expressing high levels of IL‐5 in Omenn's syndrome
Omenn's syndrome is a fatal, autosomal‐recessive combined immune deficiency characterized by several erythematous exfoliative… 
Highly Cited
1980
Highly Cited
1980
Association of a lymphocyte purine enzyme deficiency (5'-nucleotidase) with combined immunodeficiency.
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