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431 results

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Page 1
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, Sabelli C, Bacchetta R, Passerini L, Magri C, Bell CJ, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Barlati S, Badolato R. Dinwiddie DL, et al. Among authors: mazza c. J Allergy Clin Immunol. 2013 Feb;131(2):594-7.e1-3. doi: 10.1016/j.jaci.2012.10.062. J Allergy Clin Immunol. 2013. PMID: 23374272 Free PMC article. No abstract available.
Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS).
Tessarin G, Mazza C, Baronio M, Gazzurelli L, Rossi S, Moratto D, Badolato R, Rensing-Ehl A, Ehl S, Warnatz K, Rosanelli C, Morello E, Plebani A, Lougaris V. Tessarin G, et al. Among authors: mazza c. Clin Immunol. 2021 Jul;228:108757. doi: 10.1016/j.clim.2021.108757. Epub 2021 May 13. Clin Immunol. 2021. PMID: 33992756 No abstract available.
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD. Crestani E, et al. Among authors: mazza c. J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. J Allergy Clin Immunol. 2015. PMID: 26409660 Free PMC article.
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Mazza C, et al. Clin Immunol. 2011 Apr;139(1):6-11. doi: 10.1016/j.clim.2010.12.021. Epub 2011 Feb 3. Clin Immunol. 2011. PMID: 21295522
Clinical and immunological analysis of a large kindred affected by autoimmune lymphoproliferative syndrome (ALPS) due to a novel TNFRSF6 mutation displaying age dependent disease activity.
Tessarin G, Baronio M, Gazzurelli L, Rossi S, Gorio C, Bertoni E, Chiarini M, Moratto D, Mazza C, Porta F, Badolato R, Lougaris V. Tessarin G, et al. Among authors: mazza c. Clin Immunol. 2022 Dec;245:109136. doi: 10.1016/j.clim.2022.109136. Epub 2022 Sep 30. Clin Immunol. 2022. PMID: 36184054 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: mazza c. 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.
431 results