| From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation R Bacchetta, F Barzaghi, MG Roncarolo Annals of the New York Academy of Sciences 1417 (1), 5-22, 2018 | 400 | 2018 |
| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 387 | 2021 |
| Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity F Barzaghi, L Passerini, R Bacchetta Frontiers in immunology 3, 211, 2012 | 383 | 2012 |
| Coronavirus disease 2019 in patients with inborn errors of immunity: an international study I Meyts, G Bucciol, I Quinti, B Neven, A Fischer, E Seoane, ... Journal of Allergy and Clinical Immunology 147 (2), 520-531, 2021 | 379 | 2021 |
| Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the european society for immunodeficiencies-activated phosphoinositide 3-kinase δ … ME Maccari, H Abolhassani, A Aghamohammadi, A Aiuti, O Aleinikova, ... Frontiers in immunology 9, 543, 2018 | 317 | 2018 |
| Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study F Barzaghi, LCA Hernandez, B Neven, S Ricci, ZY Kucuk, JJ Bleesing, ... Journal of Allergy and Clinical Immunology 141 (3), 1036-1049. e5, 2018 | 286 | 2018 |
| Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency MP Cicalese, F Ferrua, L Castagnaro, R Pajno, F Barzaghi, S Giannelli, ... Blood, The Journal of the American Society of Hematology 128 (1), 45-54, 2016 | 251 | 2016 |
| Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity K Goudy, D Aydin, F Barzaghi, E Gambineri, M Vignoli, SC Mannurita, ... Clinical immunology 146 (3), 248-261, 2013 | 246 | 2013 |
| Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study F Ferrua, MP Cicalese, S Galimberti, S Giannelli, F Dionisio, F Barzaghi, ... The Lancet Haematology 6 (5), e239-e253, 2019 | 212 | 2019 |
| Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded … F Fumagalli, V Calbi, MGN Sora, M Sessa, C Baldoli, PMV Rancoita, ... The Lancet 399 (10322), 372-383, 2022 | 197 | 2022 |
| In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells L Biasco, S Scala, L Basso Ricci, F Dionisio, C Baricordi, A Calabria, ... Science translational medicine 7 (273), 273ra13-273ra13, 2015 | 191 | 2015 |
| The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 169 | 2022 |
| Hematopoietic stem-and progenitor-cell gene therapy for Hurler syndrome B Gentner, F Tucci, S Galimberti, F Fumagalli, M De Pellegrin, P Silvani, ... New England Journal of Medicine 385 (21), 1929-1940, 2021 | 139 | 2021 |
| T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency I Brigida, M Zoccolillo, MP Cicalese, L Pfajfer, F Barzaghi, S Scala, ... Blood, The Journal of the American Society of Hematology 132 (22), 2362-2374, 2018 | 122 | 2018 |
| Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations J Thalhammer, G Kindle, A Nieters, S Rusch, MRJ Seppänen, A Fischer, ... Journal of Allergy and Clinical Immunology 148 (5), 1332-1341. e5, 2021 | 120 | 2021 |
| CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells M Goodwin, E Lee, U Lakshmanan, S Shipp, L Froessl, F Barzaghi, ... Science advances 6 (19), eaaz0571, 2020 | 115 | 2020 |
| A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency S Volpi, MP Cicalese, P Tuijnenburg, ATJ Tool, E Cuadrado, ... Journal of Allergy and Clinical Immunology 143 (6), 2296-2299, 2019 | 106 | 2019 |
| Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome V Lampasona, L Passerini, F Barzaghi, C Lombardoni, E Bazzigaluppi, ... PLoS One 8 (11), e78664, 2013 | 86 | 2013 |
| Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome F Barzaghi, L Passerini, E Gambineri, SC Mannurita, T Cornu, ES Kang, ... Journal of autoimmunity 38 (1), 49-58, 2012 | 82 | 2012 |
| Neutralizing anti-cytokine autoantibodies against interferon-α in immunodysregulation polyendocrinopathy enteropathy X-linked JM Rosenberg, ME Maccari, F Barzaghi, EJ Allenspach, C Pignata, ... Frontiers in immunology 9, 544, 2018 | 68 | 2018 |
