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Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.
Saettini F, Fazio G, Corti P, Quadri M, Bugarin C, Gaipa G, Penco F, Moratto D, Chiarini M, Baronio M, Gazzurelli L, Imberti L, Paghera S, Giliani S, Cazzaniga G, Plebani A, Badolato R, Lougaris V, Gattorno M, Biondi A. Saettini F, et al. Among authors: giliani s. Clin Immunol. 2020 Sep;218:108525. doi: 10.1016/j.clim.2020.108525. Epub 2020 Jul 11. Clin Immunol. 2020. PMID: 32659374
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.
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.
Pai SY, DeMartiis D, Forino C, Cavagnini S, Lanfranchi A, Giliani S, Moratto D, Mazza C, Porta F, Imberti L, Notarangelo LD, Mazzolari E. Pai SY, et al. Among authors: giliani s. Bone Marrow Transplant. 2006 Nov;38(10):671-9. doi: 10.1038/sj.bmt.1705512. Epub 2006 Oct 2. Bone Marrow Transplant. 2006. PMID: 17013426
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
160 results