Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

Copyright © 2013 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 146(2013), 3 vom: 01. März, Seite 248-61
1. Verfasser: Goudy, Kevin (VerfasserIn)
Weitere Verfasser: 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
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2013
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Cytokines IL2RA protein, human Interleukin-2 Receptor alpha Subunit
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520 |a 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 lymphoproliferation, mainly of the CD8(+) T cells, was detected together with an increase in T cell activation markers and elevated serum cytokines. However, Ag-specific responses were impaired in vivo and in vitro. Activated CD8(+)STAT5(+) T cells with lytic potential infiltrated the skin, even though FOXP3(+) Tregs were present and maintained a higher capacity to respond to IL-2 compared to other T-cell subsets. Thus, the complex pathogenesis of CD25 deficiency provides invaluable insight into the role of IL2/IL-2RA-dependent regulation in autoimmunity and inflammatory diseases 
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650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
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700 1 |a Aydin, Didem  |e verfasserin  |4 aut 
700 1 |a Barzaghi, Federica  |e verfasserin  |4 aut 
700 1 |a Gambineri, Eleonora  |e verfasserin  |4 aut 
700 1 |a Vignoli, Marina  |e verfasserin  |4 aut 
700 1 |a Ciullini Mannurita, Sara  |e verfasserin  |4 aut 
700 1 |a Doglioni, Claudio  |e verfasserin  |4 aut 
700 1 |a Ponzoni, Maurilio  |e verfasserin  |4 aut 
700 1 |a Cicalese, Maria Pia  |e verfasserin  |4 aut 
700 1 |a Assanelli, Andrea  |e verfasserin  |4 aut 
700 1 |a Tommasini, Alberto  |e verfasserin  |4 aut 
700 1 |a Brigida, Immacolata  |e verfasserin  |4 aut 
700 1 |a Dellepiane, Rosa Maria  |e verfasserin  |4 aut 
700 1 |a Martino, Silvana  |e verfasserin  |4 aut 
700 1 |a Olek, Sven  |e verfasserin  |4 aut 
700 1 |a Aiuti, Alessandro  |e verfasserin  |4 aut 
700 1 |a Ciceri, Fabio  |e verfasserin  |4 aut 
700 1 |a Roncarolo, Maria Grazia  |e verfasserin  |4 aut 
700 1 |a Bacchetta, Rosa  |e verfasserin  |4 aut 
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