Sara Ciullini Mannurita

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

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

Kevin Goudy, Didem Aydin, Federica Barzaghi et al. · Clinical Immunology · 2013 · 213 citations · Full text

RNA-binding proteins ZFP36L1 and ZFP36L2 promote cell quiescence

Alison Galloway, Alexander Saveliev, Sebastian Łukasiak et al. · Science · 2016 · 181 citations · Full text

Pre-bcr-induced Expansion, Lymphocyte Development, Immunology +16

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Eleonora Gambineri, Sara Ciullini Mannurita, David Hagin et al. · Frontiers in Immunology · 2018 · 178 citations · Full text

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

Masanobu Tsuda, Troy R. Torgerson, Carlo Selmi et al. · Journal of Autoimmunity · 2010 · 108 citations

Rheumatology, Anti-mitochondrial Autoantibodies, Allergy +15