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463 results

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Page 1
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Among authors: facchetti f. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
PAX1 is essential for development and function of the human thymus.
Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM, Dobbs AK, Masneri S, Joshi A, Otaizo-Carrasquero F, Myers TG, Ganesan S, Bondioni MP, Ho ML, Marks C, Alajlan H, Mohammed RW, Zou F, Valencia CA, Filipovich AH, Facchetti F, Boisson B, Azzari C, Al-Saud BK, Al-Mousa H, Casanova JL, Abraham RS, Notarangelo LD. Yamazaki Y, et al. Among authors: facchetti f. Sci Immunol. 2020 Feb 28;5(44):eaax1036. doi: 10.1126/sciimmunol.aax1036. Sci Immunol. 2020. PMID: 32111619 Free PMC article.
Defect of regulatory T cells in patients with Omenn syndrome.
Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R. Cassani B, et al. Among authors: facchetti f. J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023. J Allergy Clin Immunol. 2010. PMID: 20109747
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Chen R, et al. Among authors: facchetti f. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4. J Allergy Clin Immunol. 2013. PMID: 23830146 Free PMC article.
Studies of the expression of the Wiskott-Aldrich syndrome protein.
Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL. Stewart DM, et al. Among authors: facchetti f. J Clin Invest. 1996 Jun 1;97(11):2627-34. doi: 10.1172/JCI118712. J Clin Invest. 1996. PMID: 8647957 Free PMC article.
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R. Cavadini P, et al. Among authors: facchetti f. J Clin Invest. 2005 Mar;115(3):728-32. doi: 10.1172/JCI23087. J Clin Invest. 2005. PMID: 15696198 Free PMC article.
In vitro cell death of activated lymphocytes in Omenn's syndrome.
Brugnoni D, Airò P, Facchetti F, Blanzuoli L, Ugazio AG, Cattaneo R, Notarangelo LD. Brugnoni D, et al. Among authors: facchetti f. Eur J Immunol. 1997 Nov;27(11):2765-73. doi: 10.1002/eji.1830271104. Eur J Immunol. 1997. PMID: 9394797
463 results