Article
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.
Clinical immunology (Orlando, Fla.) - 1 Mar 2013
Goudy Kevin, Aydin Didem, Barzaghi Federica, Gambineri Eleonora, Vignoli Marina, Ciullini Mannurita Sara, Doglioni Claudio, Ponzoni Maurilio, Cicalese Maria Pia, Assanelli Andrea, Tommasini Alberto, Brigida Immacolata, Dellepiane Rosa Maria, Martino Silvana, Olek Sven, Aiuti Alessandro, Ciceri Fabio, Roncarolo Maria Grazia, Bacchetta Rosa
Abstract excerpt
Cell-surface CD25 expression is critical for maintaining immune function and homeostasis. As in few reported cases, CD25 deficiency manifests with severe autoimmune enteritis and viral infections. To dissect the underlying immunological mechanisms driving these symptoms, we analyzed the regulatory and effector T cell functions in a CD25 deficient patient harboring a novel IL2RA mutation. Pronounced...
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