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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: penco f. Clin Immunol. 2020 Sep;218:108525. doi: 10.1016/j.clim.2020.108525. Epub 2020 Jul 11. Clin Immunol. 2020. PMID: 32659374
HLA-G and HLA-E in patients with juvenile idiopathic arthritis.
Prigione I, Penco F, Martini A, Gattorno M, Pistoia V, Morandi F. Prigione I, et al. Among authors: penco f. Rheumatology (Oxford). 2011 May;50(5):966-72. doi: 10.1093/rheumatology/keq418. Epub 2010 Dec 23. Rheumatology (Oxford). 2011. PMID: 21186170
Monogenic polyarteritis: the lesson of ADA2 deficiency.
Caorsi R, Penco F, Schena F, Gattorno M. Caorsi R, et al. Among authors: penco f. Pediatr Rheumatol Online J. 2016 Sep 8;14(1):51. doi: 10.1186/s12969-016-0111-7. Pediatr Rheumatol Online J. 2016. PMID: 27609179 Free PMC article. Review.
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: penco f. Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18. Ann Rheum Dis. 2017. PMID: 28522451 Free article.
ADA2 deficiency due to a novel structural variation in 22q11.1.
Grossi A, Cusano R, Rusmini M, Penco F, Schena F, Podda RA, Caorsi R, Gattorno M, Uva P, Ceccherini I. Grossi A, et al. Among authors: penco f. Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920658 No abstract available.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, Fenoglio D, Salis A, Bertoni A, Prigione I, Bocca P, Insalaco A, De Benedetti F, Antonini F, Grossi A, Signa S, Damonte G, Ceccherini I, Filaci G, Traggiai E, Gattorno M. Schena F, et al. Among authors: penco f. Eur J Immunol. 2021 Jan;51(1):206-219. doi: 10.1002/eji.202048549. Epub 2020 Aug 28. Eur J Immunol. 2021. PMID: 32707604 Free article.
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure.
Dell'Orso G, Grossi A, Penco F, Caorsi R, Palmisani E, Terranova P, Schena F, Lupia M, Ricci E, Montalto S, Pierri F, Ceccherini I, Fioredda F, Dufour C, Gattorno M, Miano M. Dell'Orso G, et al. Among authors: penco f. Front Immunol. 2021 Oct 14;12:754029. doi: 10.3389/fimmu.2021.754029. eCollection 2021. Front Immunol. 2021. PMID: 34721429 Free PMC article.
33 results