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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: plebani a. 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: plebani a. 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.
Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients.
Wong GK, Goldacker S, Winterhalter C, Grimbacher B, Chapel H, Lucas M, Alecsandru D, McEwen D, Quinti I, Martini H, Milito C, Schmidt RE, Ernst D, Espanol T, Vidaller A, Carbone J, Fernandez-Cruz E, Lougaris V, Plebani A, Kutukculer N, Gonzalez-Granado LI, Contreras R, Kiani-Alikhan S, Ibrahim MA, Litzman J, Jones A, Gaspar HB, Hammarstrom L, Baumann U, Warnatz K, Huissoon AP; Clinical Working Party of the European Society for Immunodeficiencies (ESID). Wong GK, et al. Among authors: plebani a. Clin Exp Immunol. 2013 Apr;172(1):63-72. doi: 10.1111/cei.12039. Clin Exp Immunol. 2013. PMID: 23480186 Free PMC article.
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.
Masneri S, Ferraro RM, Lanzi G, Piovani G, Mori L, Barisani C, Moratto D, Plebani A, Badolato R, Soresina A, Giliani S. Masneri S, et al. Among authors: plebani a. Stem Cell Res. 2019 Dec;41:101596. doi: 10.1016/j.scr.2019.101596. Epub 2019 Oct 18. Stem Cell Res. 2019. PMID: 31669783 Free article.
419 results