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Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F, Cattoni A, D'Angio' M, Corti P, Maitz S, Pagni F, Seminati D, Pezzoli L, Iascone M, Biondi A, Bonanomi S. Saettini F, et al. Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20. Br J Haematol. 2020. PMID: 32196641 Free article. No abstract available.
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. Clin Immunol. 2020 Sep;218:108525. doi: 10.1016/j.clim.2020.108525. Epub 2020 Jul 11. Clin Immunol. 2020. PMID: 32659374
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.
Tessarin G, Rossi S, Baronio M, Gazzurelli L, Colpani M, Benvenuto A, Zunica F, Cardinale F, Martire B, Brescia L, Costagliola G, Luti L, Casazza G, Menconi MC, Saettini F, Palumbo L, Girelli MF, Badolato R, Lanzi G, Chiarini M, Moratto D, Meini A, Giliani S, Bondioni MP, Plebani A, Lougaris V. Tessarin G, et al. Among authors: saettini f. J Clin Med. 2020 Oct 17;9(10):3335. doi: 10.3390/jcm9103335. J Clin Med. 2020. PMID: 33080915 Free PMC article.
47 results