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Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
Kumar R, Milanesi S, Szpakowska M, Dotta L, Di Silvestre D, Trotta AM, Bello AM, Giacomelli M, Benedito M, Azevedo J, Pereira A, Cortesao E, Vacchini A, Castagna A, Pinelli M, Moratto D, Bonecchi R, Locati M, Scala S, Chevigné A, Borroni EM, Badolato R. Kumar R, et al. Among authors: dotta l. JCI Insight. 2023 Mar 8;8(5):e145688. doi: 10.1172/jci.insight.145688. JCI Insight. 2023. PMID: 36883568 Free PMC article.
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo V, Dotta L, Giardino G, Cirillo E, Lougaris V, D'Assante R, Prandini A, Consolini R, Farrow EG, Thiffault I, Saunders CJ, Leonardi A, Plebani A, Badolato R, Pignata C. Gallo V, et al. Among authors: dotta l. Front Immunol. 2016 Nov 7;7:466. doi: 10.3389/fimmu.2016.00466. eCollection 2016. Front Immunol. 2016. PMID: 27872624 Free PMC article.
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Tabellini G, Vairo D, Scomodon O, Tamassia N, Ferraro RM, Patrizi O, Gasperini S, Soresina A, Giardino G, Pignata C, Lougaris V, Plebani A, Dotta L, Cassatella MA, Parolini S, Badolato R. Tabellini G, et al. Among authors: dotta l. J Allergy Clin Immunol. 2017 Aug;140(2):553-564.e4. doi: 10.1016/j.jaci.2016.10.051. Epub 2017 Jan 6. J Allergy Clin Immunol. 2017. PMID: 28069426 Free article.
37 results