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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: villanacci v. 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.
Prevalence and diagnosis of celiac disease in IgA-deficient children.
Meini A, Pillan NM, Villanacci V, Monafo V, Ugazio AG, Plebani A. Meini A, et al. Among authors: villanacci v. Ann Allergy Asthma Immunol. 1996 Oct;77(4):333-6. doi: 10.1016/S1081-1206(10)63329-7. Ann Allergy Asthma Immunol. 1996. PMID: 8885812
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: villanacci v. 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: villanacci v. Clin Immunol. 2019 Mar;200:31-34. doi: 10.1016/j.clim.2019.01.003. Epub 2019 Jan 9. Clin Immunol. 2019. PMID: 30639166
475 results