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Year Number of Results
2003 2
2008 1
2009 2
2010 3
2011 2
2012 1
2013 2
2014 4
2015 4
2016 4
2017 8
2018 3
2019 9
2020 5
2021 11
2022 7
2023 5
2024 0

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64 results

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Page 1
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Finocchi A, Pacillo L, Chiriaco M, Di Matteo G, Francalanci P, Angelino G, Caldaro T, Rivalta B, O'Mara M, Zhang S, Lepri FR, Novelli A, De Angelis P, Knaus UG, Rea F. Finocchi A, et al. Among authors: di matteo g. Front Genet. 2023 Nov 23;14:1276697. doi: 10.3389/fgene.2023.1276697. eCollection 2023. Front Genet. 2023. PMID: 38075699 Free PMC article.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: di matteo g. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Sgrulletti M, Cifaldi C, Di Cesare S, Kroegler B, Del Duca E, Ferradini V, Graziani S, Bengala M, Di Matteo G, Moschese V. Sgrulletti M, et al. Among authors: di matteo g. Front Pediatr. 2023 Jan 9;10:1055091. doi: 10.3389/fped.2022.1055091. eCollection 2022. Front Pediatr. 2023. PMID: 36699297 Free PMC article.
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
Di Lorenzo B, Pacillo L, Milardi G, Jofra T, Di Cesare S, Gerosa J, Marzinotto I, Zapparoli E, Rivalta B, Cifaldi C, Barzaghi F, Giancotta C, Zangari P, Rapini N, Deodati A, Amodio G, Passerini L, Carrera P, Gregori S, Palma P, Finocchi A, Lampasona V, Cicalese MP, Schiaffini R, Di Matteo G, Merelli I, Barcella M, Aiuti A, Piemonti L, Cancrini C, Fousteri G. Di Lorenzo B, et al. Among authors: di matteo g. Front Immunol. 2022 Aug 26;13:952715. doi: 10.3389/fimmu.2022.952715. eCollection 2022. Front Immunol. 2022. PMID: 36090979 Free PMC article.
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Chiriaco M, Ursu GM, Amodio D, Cotugno N, Volpi S, Berardinelli F, Pizzi S, Cifaldi C, Zoccolillo M, Prigione I, Di Cesare S, Giancotta C, Anastasio E, Rivalta B, Pacillo L, Zangari P, Fiocchi AG, Diociaiuti A, Bruselles A, Pantaleoni F, Ciolfi A, D'Oria V, Palumbo G, Gattorno M, El Hachem M, de Villartay JP, Finocchi A, Palma P, Rossi P, Tartaglia M, Aiuti A, Antoccia A, Di Matteo G, Cancrini C. Chiriaco M, et al. Among authors: di matteo g. Front Immunol. 2022 Jul 29;13:919237. doi: 10.3389/fimmu.2022.919237. eCollection 2022. Front Immunol. 2022. PMID: 35967303 Free PMC article.
Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.
Milardi G, Di Lorenzo B, Gerosa J, Barzaghi F, Di Matteo G, Omrani M, Jofra T, Merelli I, Barcella M, Filippini M, Conti A, Ferrua F, Pozzo Giuffrida F, Dionisio F, Rovere-Querini P, Marktel S, Assanelli A, Piemontese S, Brigida I, Zoccolillo M, Cirillo E, Giardino G, Danieli MG, Specchia F, Pacillo L, Di Cesare S, Giancotta C, Romano F, Matarese A, Chetta AA, Trimarchi M, Laurenzi A, De Pellegrin M, Darin S, Montin D, Marinoni M, Dellepiane RM, Sordi V, Lougaris V, Vacca A, Melzi R, Nano R, Azzari C, Bongiovanni L, Pignata C, Cancrini C, Plebani A, Piemonti L, Petrovas C, Di Micco R, Ponzoni M, Aiuti A, Cicalese MP, Fousteri G. Milardi G, et al. Among authors: di matteo g. Eur J Immunol. 2022 Jul;52(7):1171-1189. doi: 10.1002/eji.202149480. Epub 2022 May 29. Eur J Immunol. 2022. PMID: 35562849 Free PMC article.
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
Marzollo A, Conti F, Rossini L, Rivalta B, Leonardi L, Tretti C, Tosato F, Chiriaco M, Ursu GM, Natalucci CT, Martella M, Borghesi A, Mancini C, Ciolfi A, di Matteo G, Tartaglia M, Cancrini C, Dotta A, Biffi A, Finocchi A, Bresolin S. Marzollo A, et al. Among authors: di matteo g. J Clin Immunol. 2022 Feb;42(2):299-311. doi: 10.1007/s10875-021-01159-4. Epub 2021 Oct 31. J Clin Immunol. 2022. PMID: 34718934 Review.
64 results