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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: tabellini g. 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.
Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease.
Lougaris V, Tabellini G, Vitali M, Baronio M, Patrizi O, Tampella G, Biasini A, Moratto D, Parolini S, Plebani A. Lougaris V, et al. Among authors: tabellini g. J Allergy Clin Immunol. 2015 Jun;135(6):1641-3. doi: 10.1016/j.jaci.2014.11.038. Epub 2015 Jan 17. J Allergy Clin Immunol. 2015. PMID: 25605273 No abstract available.
p85α is an intrinsic regulator of human natural killer cell effector functions.
Lougaris V, Patrizi O, Baronio M, Tabellini G, Tampella G, Lanzi G, Salvini F, Trizzino A, Parolini S, Plebani A. Lougaris V, et al. Among authors: tabellini g. J Allergy Clin Immunol. 2016 Aug;138(2):605-608.e3. doi: 10.1016/j.jaci.2016.01.026. Epub 2016 Mar 23. J Allergy Clin Immunol. 2016. PMID: 27016802 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. 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.
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter W, Lougaris V, Wallace JG, Badran Y, Hoyos-Bachiloglu R, Peters Z, Wilkie H, Das M, Janssen E, Beano A, Farhat KB, Kam C, Bercich L, Incardona P, Villanacci V, Bondioni MP, Meini A, Baronio M, Abarzua P, Parolini S, Tabellini G, Maio S, Schmidt B, Goldsmith JD, Murphy G, Hollander G, Plebani A, Chou J, Geha RS. Bainter W, et al. Among authors: tabellini g. Sci Immunol. 2021 Sep 17;6(63):eabf6723. doi: 10.1126/sciimmunol.abf6723. Epub 2021 Sep 17. Sci Immunol. 2021. PMID: 34533979 Free PMC article.
NFKB1 regulates human NK cell maturation and effector functions.
Lougaris V, Patrizi O, Baronio M, Tabellini G, Tampella G, Damiati E, Frede N, van der Meer JWM, Fliegauf M, Grimbacher B, Parolini S, Plebani A. Lougaris V, et al. Among authors: tabellini g. Clin Immunol. 2017 Feb;175:99-108. doi: 10.1016/j.clim.2016.11.012. Epub 2016 Dec 3. Clin Immunol. 2017. PMID: 27923702 Free article.
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: tabellini g. 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 novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S. Lanzi G, et al. Among authors: tabellini g. J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9. J Exp Med. 2012. PMID: 22231303 Free PMC article.
83 results