Omenn's syndrome occurring in patients without mutations in recombination activating genes

Omenn's syndrome occurring in patients without mutations in recombination activating genes

Omenn syndrome (OS) is characterised by hepatosplenomegaly, lymphadenopathy, erythema, eosinophilia, elevated IgE, oligoclonal T cell expansions and recombinase activating gene (RAG) mutations. We investigated 9 cases of OS to correlate genotype with immunophenotype using a two-color flow cytometry...

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Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 116(2005), 3 vom: 31. Sept., Seite 246-56
1. Verfasser: Gennery, Andrew R (VerfasserIn)
Weitere Verfasser: Hodges, Elizabeth, Williams, Anthony P, Harris, Susan, Villa, Anna, Angus, Brian, Cant, Andrew J, Smith, John L
Format: Aufsatz
Sprache:English
Veröffentlicht: 2005
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't DNA-Binding Proteins Homeodomain Proteins Nuclear Proteins RAG2 protein, human V(D)J recombination activating protein 2 RAG-1 protein 128559-51-3 mehr... DNA 9007-49-2 DCLRE1C protein, human EC 3.1.- Endonucleases