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Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, Volpi S, Zecca M, Marinoni M, Baselli LA, Dellepiane RM, Carrabba M, Fabio G, Putti MC, Cinetto F, Lunardi C, Gazzurelli L, Benvenuto A, Bertolini P, Conti F, Consolini R, Ricci S, Azzari C, Leonardi L, Duse M, Pulvirenti F, Milito C, Quinti I, Cancrini C, Finocchi A, Moschese V, Cirillo E, Crescenzi L, Spadaro G, Marasco C, Vacca A, Cardinale F, Martire B, Trizzino A, Licciardello M, Cossu F, Di Matteo G, Badolato R, Ferrari S, Giliani S, Pession A, Ugazio A, Pignata C, Plebani A. Lougaris V, et al. Among authors: giliani s. J Allergy Clin Immunol. 2020 Aug;146(2):429-437. doi: 10.1016/j.jaci.2020.03.001. Epub 2020 Mar 10. J Allergy Clin Immunol. 2020. PMID: 32169379
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Notarangelo LD, et al. Among authors: giliani s. Immunol Rev. 2000 Dec;178:39-48. doi: 10.1034/j.1600-065x.2000.17812.x. Immunol Rev. 2000. PMID: 11213805 Review.
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Ferrari S, et al. Among authors: giliani s. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9. doi: 10.1073/pnas.221456898. Proc Natl Acad Sci U S A. 2001. PMID: 11675497 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: giliani s. 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
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S. Lanzi G, et al. Among authors: giliani s. Blood. 2010 Dec 23;116(26):5867-74. doi: 10.1182/blood-2010-03-274241. Epub 2010 Aug 11. Blood. 2010. PMID: 20702779 Free article.
160 results