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Page 1
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: saettini f. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
Guarina A, Farruggia P, Mariani E, Saracco P, Barone A, Onofrillo D, Cesaro S, Angarano R, Barberi W, Bonanomi S, Corti P, Crescenzi B, Dell'Orso G, De Matteo A, Giagnuolo G, Iori AP, Ladogana S, Lucarelli A, Lupia M, Martire B, Mastrodicasa E, Massaccesi E, Arcuri L, Giarratana MC, Menna G, Miano M, Notarangelo LD, Palazzi G, Palmisani E, Pestarino S, Pierri F, Pillon M, Ramenghi U, Russo G, Saettini F, Timeus F, Verzegnassi F, Zecca M, Fioredda F, Dufour C. Guarina A, et al. Among authors: saettini f. Blood Cells Mol Dis. 2024 Sep;108:102860. doi: 10.1016/j.bcmd.2024.102860. Epub 2024 May 29. Blood Cells Mol Dis. 2024. PMID: 38889660
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L, Ricci S, Montin D, Azzari C, Gambineri E, Tellini M, Conti F, Pession A, Saettini F, Naviglio S, Valencic E, Magnolato A, Baselli L, Azzolini S, Consolini R, Leonardi L, D'Alba I, Carraro E, Romano R, Melis D, Stagi S, Cirillo E, Giardino G, Biffi A, Pignata C, Putti MC, Marzollo A. Rossini L, et al. Among authors: saettini f. J Clin Immunol. 2024 Apr 27;44(5):105. doi: 10.1007/s10875-024-01676-y. J Clin Immunol. 2024. PMID: 38676773
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: saettini f. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response.
Jaschke NP, Breining D, Hofmann M, Pählig S, Baschant U, Oertel R, Traikov S, Grinenko T, Saettini F, Biondi A, Stylianou M, Bringmann H, Zhang C, Yoshida TM, Weidner H, Poller WC, Swirski FK, Göbel A, Hofbauer LC, Rauner M, Scheiermann C, Wang A, Rachner TD. Jaschke NP, et al. Among authors: saettini f. Immunity. 2024 Feb 13;57(2):364-378.e9. doi: 10.1016/j.immuni.2024.01.005. Epub 2024 Jan 31. Immunity. 2024. PMID: 38301651 Free article.
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders.
Fioredda F, Beccaria A, Casartelli P, Turrini E, Contratto C, Giarratana MC, Bagnasco F, Saettini F, Pillon M, Marzollo A, Zanardi S, Civino A, Onofrillo D, Lanciotti M, Ceccherini I, Grossi A, Coviello D, Terranova P, Lupia M, Del Borrello G, Uva P, Cangelosi D, Cavalca G, Miano M, Dufour C. Fioredda F, et al. Among authors: saettini f. Am J Hematol. 2024 Apr;99(4):534-542. doi: 10.1002/ajh.27221. Epub 2024 Jan 29. Am J Hematol. 2024. PMID: 38282561
The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.
Coppola E, Sgrulletti M, Cortesi M, Romano R, Cirillo E, Giardino G, Dotta L, Cancrini C, Bruzzese D, Badolato R, Moschese V, Pignata C; in collaboration with IEI-VCS Task Force. Coppola E, et al. J Clin Immunol. 2024 Jan 17;44(2):47. doi: 10.1007/s10875-023-01644-y. J Clin Immunol. 2024. PMID: 38231401 Free PMC article.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F. Roncareggi S, et al. Among authors: saettini f. J Clin Immunol. 2023 Nov;43(8):2192-2207. doi: 10.1007/s10875-023-01583-8. Epub 2023 Oct 14. J Clin Immunol. 2023. PMID: 37837580
49 results