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Page 1
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Lougaris V, Baronio M, Castagna A, Tessarin G, Rossi S, Gazzurelli L, Benvenuto A, Moratto D, Chiarini M, Cattalini M, Facchetti M, Palumbo L, Giliani S, Girelli MF, Badolato R, Bondioni MP, Facchetti F, Meini A, Plebani A. Lougaris V, et al. Among authors: giliani s. Clin Immunol. 2020 Oct;219:108543. doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16. Clin Immunol. 2020. PMID: 32681977
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.
167 results