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A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, Lorenzini T, Moratto D, Tabellini G, Parolini S, Seleman M, Stafstrom K, Xu H, Harris C, Geha RS, Plebani A. Lougaris V, et al. Among authors: lorenzini t. J Allergy Clin Immunol. 2019 Apr;143(4):1649-1653.e3. doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14. J Allergy Clin Immunol. 2019. PMID: 30654050 No abstract available.
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome.
Lougaris V, Facchini E, Baronio M, Lorenzini T, Moratto D, Specchia F, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2016 Dec;173:181-183. doi: 10.1016/j.clim.2016.10.019. Epub 2016 Nov 5. Clin Immunol. 2016. PMID: 27825976 No abstract available.
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2018 Mar;188:20-22. doi: 10.1016/j.clim.2017.11.008. Epub 2017 Nov 21. Clin Immunol. 2018. PMID: 29170023 No abstract available.
A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.
Lougaris V, Baronio M, Gazzurelli L, Lorenzini T, Fuoti M, Moratto D, Bozzola A, Ricci C, Bondioni MP, Ravelli A, Villanacci V, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2018 Dec;197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13. Clin Immunol. 2018. PMID: 30326257 No abstract available.
Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE.
Lorenzini T, Giacomelli M, Scomodon O, Cortesi M, Rivellini V, Dotta L, Soresina A, Dellepiane RM, Carrabba M, Cossu F, Cancrini C, Specchia F, Giardino G, Pignata C, Plebani A, Pietrogrande MC, Badolato R; IPINET (Italian Network for Primary Immunodeficiencies). Lorenzini T, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):2072-2075.e4. doi: 10.1016/j.jaip.2019.02.012. Epub 2019 Feb 20. J Allergy Clin Immunol Pract. 2019. PMID: 30797078 No abstract available.
34 results