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Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Baccelli F, Leardini D, Muratore E, Messelodi D, Bertuccio SN, Chiriaco M, Cancrini C, Conti F, Castagnetti F, Pedace L, Pession A, Yoshimi A, Niemeyer C, Tartaglia M, Locatelli F, Masetti R. Baccelli F, et al. Among authors: conti f. Hum Genomics. 2022 Sep 19;16(1):40. doi: 10.1186/s40246-022-00414-y. Hum Genomics. 2022. PMID: 36123612 Free PMC article.
The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood.
Barroeta Seijas AB, Graziani S, Cancrini C, Finocchi A, Ferrari S, Miniero R, Conti F, Zuntini R, Chini L, Chiarello P, Bengala M, Rossi P, Moschese V, Di Matteo G. Barroeta Seijas AB, et al. Among authors: conti f. Int J Immunopathol Pharmacol. 2012 Apr-Jun;25(2):407-14. doi: 10.1177/039463201202500210. Int J Immunopathol Pharmacol. 2012. PMID: 22697072 Free article.
Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.
Valencic E, Grasso AG, Conversano E, Lucafò M, Piscianz E, Gregori M, Conti F, Cancrini C, Tommasini A. Valencic E, et al. Among authors: conti f. J Allergy Clin Immunol Pract. 2018 Nov-Dec;6(6):2165-2167. doi: 10.1016/j.jaip.2018.02.029. Epub 2018 Mar 3. J Allergy Clin Immunol Pract. 2018. PMID: 29510232 Free article. No abstract available.
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.
Chiriaco M, Di Matteo G, Conti F, Petricone D, De Luca M, Di Cesare S, Cifaldi C, De Vito R, Zoccolillo M, Serafinelli J, Poerio N, Fraziano M, Brigida I, Cardinale F, Rossi P, Aiuti A, Cancrini C, Finocchi A. Chiriaco M, et al. Among authors: conti f. Front Immunol. 2019 Feb 14;10:130. doi: 10.3389/fimmu.2019.00130. eCollection 2019. Front Immunol. 2019. PMID: 30837984 Free PMC article.
Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.
Montin D, Marolda A, Licciardi F, Robasto F, Di Cesare S, Ricotti E, Ferro F, Scaioli G, Giancotta C, Amodio D, Conti F, Giardino G, Leonardi L, Ricci S, Volpi S, Baselli LA, Azzari C, Bossi G, Consolini R, Dellepiane RM, Duse M, Gattorno M, Martire B, Putti MC, Soresina A, Plebani A, Ramenghi U, Martino S, Pignata C, Cancrini C. Montin D, et al. Among authors: conti f. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2369-2376. doi: 10.1016/j.jaip.2019.03.014. Epub 2019 Mar 26. J Allergy Clin Immunol Pract. 2019. PMID: 30922987
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
Marcovecchio GE, Bortolomai I, Ferrua F, Fontana E, Imberti L, Conforti E, Amodio D, Bergante S, Macchiarulo G, D'Oria V, Conti F, Di Cesare S, Fousteri G, Carotti A, Giamberti A, Poliani PL, Notarangelo LD, Cancrini C, Villa A, Bosticardo M. Marcovecchio GE, et al. Among authors: conti f. Front Immunol. 2019 Mar 15;10:447. doi: 10.3389/fimmu.2019.00447. eCollection 2019. Front Immunol. 2019. PMID: 30949166 Free PMC article. Clinical Trial.
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. Among authors: conti f. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Front Immunol. 2019. PMID: 31031743 Free PMC article.
Corrigendum: 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. Among authors: conti f. Front Immunol. 2019 May 31;10:1184. doi: 10.3389/fimmu.2019.01184. eCollection 2019. Front Immunol. 2019. PMID: 31214169 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: conti f. 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.
1,474 results