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Innate immunity defects in Hermansky-Pudlak type 2 syndrome.
Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo LD, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths GM, Moretta A, Notarangelo LD, Badolato R. Fontana S, et al. Among authors: badolato r. Blood. 2006 Jun 15;107(12):4857-64. doi: 10.1182/blood-2005-11-4398. Epub 2006 Feb 28. Blood. 2006. PMID: 16507770 Free article.
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Badolato R, et al. Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. Blood. 2012. PMID: 22461475 Free article. No abstract available.
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: badolato r. 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.
238 results