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Year Number of Results
2016 1
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2018 1
2019 7
2020 3
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2022 6
2023 3
2024 0

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28 results

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Page 1
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: cifaldi c. 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.
Main human inborn errors of immunity leading to fungal infections.
Cifaldi C, Ursu GM, D'Alba I, Paccoud O, Danion F, Lanternier F, Chiriaco M. Cifaldi C, et al. Clin Microbiol Infect. 2022 Nov;28(11):1435-1440. doi: 10.1016/j.cmi.2022.06.031. Epub 2022 Jul 19. Clin Microbiol Infect. 2022. PMID: 35863627 Free article. Review.
Targeted treatment of autoimmune cytopenias in primary immunodeficiencies.
Pacillo L, Giardino G, Amodio D, Giancotta C, Rivalta B, Rotulo GA, Manno EC, Cifaldi C, Palumbo G, Pignata C, Palma P, Rossi P, Finocchi A, Cancrini C. Pacillo L, et al. Among authors: cifaldi c. Front Immunol. 2022 Aug 16;13:911385. doi: 10.3389/fimmu.2022.911385. eCollection 2022. Front Immunol. 2022. PMID: 36052091 Free PMC article. Review.
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: cifaldi c. Front Immunol. 2022 Jul 29;13:919237. doi: 10.3389/fimmu.2022.919237. eCollection 2022. Front Immunol. 2022. PMID: 35967303 Free PMC article.
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C, Rivalta B, Amodio D, Mattia A, Pacillo L, Di Cesare S, Chiriaco M, Ursu GM, Cotugno N, Giancotta C, Manno EC, Santilli V, Zangari P, Federica G, Palumbo G, Merli P, Palma P, Rossi P, Di Matteo G, Locatelli F, Finocchi A, Cancrini C. Cifaldi C, et al. J Clin Immunol. 2022 Jan;42(1):130-145. doi: 10.1007/s10875-021-01130-3. Epub 2021 Oct 18. J Clin Immunol. 2022. PMID: 34664192 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: cifaldi c. Front Pediatr. 2023 Jan 9;10:1055091. doi: 10.3389/fped.2022.1055091. eCollection 2022. Front Pediatr. 2023. PMID: 36699297 Free PMC article.
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, Cicalese MP, Lazarevic D, Cittaro D, Omrani M, Attardi E, Conti F, Scarselli A, Chiriaco M, Di Cesare S, Licciardi F, Davide M, Ferrua F, Canessa C, Pignata C, Giliani S, Ferrari S, Fousteri G, Barera G, Merli P, Palma P, Cesaro S, Gattorno M, Trizzino A, Moschese V, Chini L, Villa A, Azzari C, Finocchi A, Locatelli F, Rossi P, Sangiuolo F, Aiuti A, Cancrini C, Di Matteo G. Cifaldi C, et al. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Front Immunol. 2019. PMID: 31031743 Free PMC article.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. Lam MT, et al. Among authors: cifaldi c. J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10. J Exp Med. 2019. PMID: 31601675 Free PMC article.
28 results