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| A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function MT Lam, S Coppola, OHF Krumbach, G Prencipe, A Insalaco, C Cifaldi, ... Journal of Experimental Medicine 216 (12), 2778-2799, 2019 | 184 | 2019 |
| Mycobacterial disease in patients with chronic granulomatous disease: a retrospective analysis of 71 cases F Conti, SO Lugo-Reyes, LB Galicia, J He, G Aksu, EB de Oliveira Jr, ... Journal of Allergy and Clinical Immunology 138 (1), 241-248. e3, 2016 | 130 | 2016 |
| Thymic epithelium abnormalities in DiGeorge and Down syndrome patients contribute to dysregulation in T cell development GE Marcovecchio, I Bortolomai, F Ferrua, E Fontana, L Imberti, E Conforti, ... Frontiers in Immunology 10, 447, 2019 | 87 | 2019 |
| Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality V Lougaris, A Soresina, M Baronio, D Montin, S Martino, S Signa, S Volpi, ... Journal of Allergy and Clinical Immunology 146 (2), 429-437, 2020 | 77 | 2020 |
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| Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies C Cifaldi, I Brigida, F Barzaghi, M Zoccolillo, V Ferradini, D Petricone, ... Frontiers in immunology 10, 316, 2019 | 65 | 2019 |
| Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11. 2 deletion syndrome D Montin, A Marolda, F Licciardi, F Robasto, S Di Cesare, E Ricotti, ... The Journal of Allergy and Clinical Immunology: In Practice 7 (7), 2369-2376, 2019 | 50 | 2019 |
| Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in∼ 40% of patients A Gervais, F Rovida, MA Avanzini, S Croce, A Marchal, SC Lin, A Ferrari, ... Journal of Experimental Medicine 220 (9), e20230661, 2023 | 38 | 2023 |
| The impact of SARS-CoV-2 infection in patients with inborn errors of immunity: the experience of the Italian primary immunodeficiencies network (IPINet) G Giardino, C Milito, V Lougaris, A Punziano, M Carrabba, F Cinetto, ... Journal of Clinical Immunology 42 (5), 935-946, 2022 | 30 | 2022 |
| Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency M Zoccolillo, I Brigida, F Barzaghi, S Scala, RJ Hernández, L Basso-Ricci, ... Blood advances 5 (16), 3174-3187, 2021 | 27 | 2021 |
| Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds LA Baba, F Ailal, N El Hafidi, M Hubeau, F Jabot-Hanin, N Benajiba, ... Journal of clinical immunology 34, 452-458, 2014 | 27 | 2014 |
| Seletalisib for activated PI3Kδ syndromes: open-label phase 1b and extension studies N Diaz, M Juarez, C Cancrini, M Heeg, P Soler-Palacín, A Payne, ... The Journal of Immunology 205 (11), 2979-2987, 2020 | 26 | 2020 |
| Inborn errors of immunity and cancer A Tiri, R Masetti, F Conti, A Tignanelli, E Turrini, P Bertolini, S Esposito, ... Biology 10 (4), 313, 2021 | 24 | 2021 |
| Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency R Martínez-Barricarte, O Megged, P Stepensky, P Casimir, ... Journal of clinical immunology 34, 904-909, 2014 | 22 | 2014 |
| The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood ABB Seijas, S Graziani, C Cancrini, A Finocchi, S Ferrari, R Miniero, ... International Journal of Immunopathology and Pharmacology 25 (2), 407-414, 2012 | 22 | 2012 |
| Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration D Zama, F Conti, M Moratti, ME Cantarini, E Facchini, B Rivalta, ... Immunity, Inflammation and Disease 9 (2), 583-594, 2021 | 21 | 2021 |
| Expanding phenotype of Schimke immuno-osseous dysplasia: congenital anomalies of the kidneys and of the urinary tract and alteration of NK cells C Bertulli, A Marzollo, M Doria, S Di Cesare, C La Scola, F Mencarelli, ... International Journal of Molecular Sciences 21 (22), 8604, 2020 | 21 | 2020 |
| First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent … M Chiriaco, G Di Matteo, F Conti, D Petricone, M De Luca, S Di Cesare, ... Frontiers in Immunology 10, 130, 2019 | 18 | 2019 |
| Desire thinking and craving as predictors of problematic Internet pornography use in women and men C Marino, F Melodia, E Pivetta, G Mansueto, S Palmieri, G Caselli, ... Addictive Behaviors 136, 107469, 2023 | 17 | 2023 |
Jean-Laurent Casanova, MD, PhDProfessor, Rockefeller University; Investigator, Howard Hughes Medical Institute; Head, St. Giles在 rockefeller.edu 的电子邮件经过验证
