Eleonora Gambineri

Mutations in <i>STAT3</i> and <i>IL12RB1</i> impair the development of human IL-17–producing T cells

Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe‐Santos et al. · The Journal of Experimental Medicine · 2008 · 428 citations · Full text

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Federica Barzaghi, Laura Amaya, Bénédicte Neven et al. · Journal of Allergy and Clinical Immunology · 2017 · 301 citations · Full text

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Gülbû Uzel, Elizabeth P. Sampaio, Monica G. Lawrence et al. · Journal of Allergy and Clinical Immunology · 2013 · 299 citations · Full text

Autoimmune Disease, Disease Mechanism, Genetic Disorder +11

Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

Troy R. Torgerson, Avriel Linane, Nicolette Moes et al. · Gastroenterology · 2007 · 264 citations · Full text

Food Intolerance, Food Allergy, Autoimmune Disease +15

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

Eleonora Gambineri, L Perroni, Laura Passerini et al. · Journal of Allergy and Clinical Immunology · 2008 · 221 citations · Full text

Primary Immunodeficiency, Autoimmune Disease, Disease Mechanism +15