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Page 1
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.
Barzaghi F, Moratti M, Panza G, Rivalta B, Giardino G, De Rosa A, Baselli LA, Chinello M, Marzollo A, Montin D, Marinoni M, Costagliola G, Ricci S, Lodi L, Martire B, Milito C, Trizzino A, Tommasini A, Zecca M, Badolato R, Cancrini C, Lougaris V, Pignata C, Conti F. Barzaghi F, et al. J Clin Immunol. 2024 Dec 23;45(1):58. doi: 10.1007/s10875-024-01835-1. J Clin Immunol. 2024. PMID: 39714594 Free PMC article.
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.
Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Berg S, Soler-Palacin P, Campbell M, Burns SO; ESID Clinical Working Party; ERN RITA Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. J Clin Immunol. 2024. PMID: 39690292 Free PMC article.
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI).
Giardino G, Di Matteo G, Giliani S, Ferrari S, Lougaris V, Badolato R, Conti F, Romano R, Cicalese MP, Ricci S, Barzaghi F, Marzollo A, Cifaldi C, Montin D, Lodi L, Cirillo E, Martire B, Trizzino A, Sgrulletti M, Moschese V, Comegna M, Castaldo G, Tommasini A, Azzari C, Cancrini C, Aiuti A, Pignata C. Giardino G, et al. Among authors: barzaghi f. J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01282-X. doi: 10.1016/j.jaci.2024.11.030. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39622296
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. Bohlen J, et al. Among authors: barzaghi f. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
Bulté D, Barzaghi F, Mesa-Nuñez C, Rigamonti C, Basso-Ricci L, Visconti C, Crippa S, Pettinato E, Gilioli D, Milani R, Quaranta P, Caorsi R, Cafaro A, Cangemi G, Lupia M, Schena F, Grossi A, Di Colo G, Federici S, Insalaco A, De Benedetti F, Marktel S, Di Micco R, Bernardo ME, Scala S, Cicalese MP, Conti F, Miano M, Gattorno M, Dufour C, Aiuti A, Mortellaro A. Bulté D, et al. Among authors: barzaghi f. J Allergy Clin Immunol. 2024 Sep 14:S0091-6749(24)00945-X. doi: 10.1016/j.jaci.2024.09.007. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39284370 Free article.
Severe West Nile virus and Sars-CoV-2 infections in a patient with thymoma and anti-type I IFN antibodies.
Barzaghi F, Visconti C, Pipitone GB, Bondesan S, Molli G, Giannelli S, Sartirana C, Lampasona V, Bazzigaluppi E, Brigatti C, Gervais A, Bastard P, Din CT, Molinari C, Piemonti L, Casanova JL, Carrera P, Casari G, Aiuti A. Barzaghi F, et al. J Infect Dis. 2024 Jul 8:jiae321. doi: 10.1093/infdis/jiae321. Online ahead of print. J Infect Dis. 2024. PMID: 38976510
A novel STING variant triggers endothelial toxicity and SAVI disease.
Valeri E, Breggion S, Barzaghi F, Abou Alezz M, Crivicich G, Pagani I, Forneris F, Sartirana C, Costantini M, Costi S, Marino A, Chiarotto E, Colavito D, Cimaz R, Merelli I, Vicenzi E, Aiuti A, Kajaste-Rudnitski A. Valeri E, et al. Among authors: barzaghi f. J Exp Med. 2024 Sep 2;221(9):e20232167. doi: 10.1084/jem.20232167. Epub 2024 Jul 2. J Exp Med. 2024. PMID: 38953896 Free PMC article.
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Consiglieri G, Tucci F, De Pellegrin M, Guerrini B, Cattoni A, Risca G, Scarparo S, Sarzana M, Pontesilli S, Mellone R, Gasperini S, Galimberti S, Silvani P, Filisetti C, Darin S, Forni G, Miglietta S, Santi L, Facchini M, Corti A, Fumagalli F, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Recupero S, Canarutto D, Doglio M, Tedesco L, Volpi N, Rovelli A, la Marca G, Valsecchi MG, Zancan S, Ciceri F, Naldini L, Baldoli C, Parini R, Gentner B, Aiuti A, Bernardo ME. Consiglieri G, et al. Among authors: barzaghi f. Sci Transl Med. 2024 May;16(745):eadi8214. doi: 10.1126/scitranslmed.adi8214. Epub 2024 May 1. Sci Transl Med. 2024. PMID: 38691622 Clinical Trial.
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Cesana D, Cicalese MP, Calabria A, Merli P, Caruso R, Volpin M, Rudilosso L, Migliavacca M, Barzaghi F, Fossati C, Gazzo F, Pizzi S, Ciolfi A, Bruselles A, Tucci F, Spinozzi G, Pais G, Benedicenti F, Barcella M, Merelli I, Gallina P, Giannelli S, Dionisio F, Scala S, Casiraghi M, Strocchio L, Vinti L, Pacillo L, Draghi E, Cesana M, Riccardo S, Colantuono C, Six E, Cavazzana M, Carlucci F, Schmidt M, Cancrini C, Ciceri F, Vago L, Cacchiarelli D, Gentner B, Naldini L, Tartaglia M, Montini E, Locatelli F, Aiuti A. Cesana D, et al. Among authors: barzaghi f. Nat Commun. 2024 Apr 30;15(1):3662. doi: 10.1038/s41467-024-47866-5. Nat Commun. 2024. PMID: 38688902 Free PMC article.
119 results