Kevin Goudy Didem Aydin Federica Barzaghi Eleonora Gambineri Marina Vignoli Sara Ciullini Mannurita Claudio Doglioni Maurilio Ponzoni Maria Pia Cicalese Andrea Assanelli Alberto Tommasini Immacolata Brigida Rosa Maria Dellepiane Silvana Martino Sven Olek Alessandro Aiuti Fabio Ciceri Maria Grazia Roncarolo Rosa Bacchetta
10.1016/j.clim.2013.01.004
Clin Immunol
2013 Mar;146(3):248-61.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/23416241/
Immunologic Deficiency Syndromes / genetics Interleukin-2 Receptor alpha Subunit / deficiency
Immunologic Deficiency Syndromes / genetics Interleukin-2 Receptor alpha Subunit / deficiency Case Reports Research Support, Non-U.S. Gov't Autoimmunity / immunology Cell Line Cell Proliferation Child Cytokines / blood Female Humans Immunologic Deficiency Syndromes / immunology Immunologic Deficiency Syndromes / pathology Interleukin-2 Receptor alpha Subunit / genetics Interleukin-2 Receptor alpha Subunit / immunology Leukocytes, Mononuclear / cytology Leukocytes, Mononuclear / immunology Mutation Skin / immunology Skin / pathology T-Lymphocyte Subsets / immunology T-Lymphocytes / immunology Cytokines IL2RA protein, human Interleukin-2 Receptor alpha Subunit
PMC3594590
23416241
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity
2013