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Page 1
CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.
Baronio M, Gazzurelli L, Rezzola S, Rossi S, Tessarin G, Marinoni M, Salpietro A, Fiore M, Moratto D, Chiarini M, Badolato R, Parolini S, Tabellini G, Lougaris V. Baronio M, et al. Among authors: gazzurelli l. Immunobiology. 2023 May;228(3):152381. doi: 10.1016/j.imbio.2023.152381. Epub 2023 Apr 5. Immunobiology. 2023. PMID: 37086690
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: gazzurelli l. 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.
CTLA-4 regulates human Natural Killer cell effector functions.
Lougaris V, Tabellini G, Baronio M, Patrizi O, Gazzurelli L, Mitsuiki N, Pozzi MR, Grimbacher B, Parolini S, Plebani A. Lougaris V, et al. Among authors: gazzurelli l. Clin Immunol. 2018 Sep;194:43-45. doi: 10.1016/j.clim.2018.06.010. Epub 2018 Jun 30. Clin Immunol. 2018. PMID: 29966715 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: gazzurelli l. 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.
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
Lougaris V, Baronio M, Moratto D, Tampella G, Gazzurelli L, Facchetti M, Martire B, Cardinale F, Lanzarotto F, Bondioni MP, Villanacci V, Grimbacher B, Plebani A. Lougaris V, et al. Among authors: gazzurelli l. Clin Immunol. 2019 Mar;200:31-34. doi: 10.1016/j.clim.2019.01.003. Epub 2019 Jan 9. Clin Immunol. 2019. PMID: 30639166
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: gazzurelli l. 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.
The RAC2-PI3K axis regulates human NK cell maturation and function.
Tabellini G, Baronio M, Patrizi O, Benevenuto A, Gazzurelli L, Plebani A, Parolini S, Lougaris V. Tabellini G, et al. Among authors: gazzurelli l. Clin Immunol. 2019 Nov;208:108257. doi: 10.1016/j.clim.2019.108257. Epub 2019 Sep 3. Clin Immunol. 2019. PMID: 31491520 No abstract available.
NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential.
De Leo P, Gazzurelli L, Baronio M, Montin D, Di Cesare S, Giancotta C, Licciardi F, Cancrini C, Aiuti A, Plebani A, Cicalese MP, Lougaris V, Fousteri G. De Leo P, et al. Among authors: gazzurelli l. Clin Immunol. 2020 Jan;210:108309. doi: 10.1016/j.clim.2019.108309. Epub 2019 Nov 18. Clin Immunol. 2020. PMID: 31751612
29 results