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La sindrome poliendocrina autoimmune di tipo 1 in Italia

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L'Endocrinologo Aims and scope

Sommario

La sindrome poliendocrina autoimmune di tipo 1 è una patologia a trasmissione autosomica recessiva, dovuta alla presenza di mutazioni del gene AIRE. Si caratterizza per la presenza di una triade classica: candidiasi mucocutanea cronica, ipoparatiroidismo cronico e morbo di Addison. A questa triade si possono associare numerose altre patologie autoimmuni e non autoimmuni e la distrofia ectodermica. Questo articolo prende in considerazione le caratteristiche cliniche, genetiche e immunologiche di tale sindrome, con particolare rilievo ai pazienti della popolazione italiana.

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Ringraziamenti

Gli autori ringraziano per la collaborazione nella raccolta e nello studio dei pazienti: Alessandra Cassio (Bologna), Shu Chen (Cardiff), Iacopo Chiodini (Milano), Antonino Crinò (Roma), Giuseppe Delitala (Sassari), Filippo De Luca (Messina), Alessandra Fierabracci (Roma), Jadwiga Furmaniak (Cardiff), Lucia Ghizzoni (Torino), Carla Giordano (Palermo), Roberta Giordano (Torino), Nella Augusta Greggio (Padova), Maria del Pilar Larosa (Cardiff), Luca Manetti (Pisa), Stefano Mariotti (Cagliari), Stefano Masiero (Padova), Patrizia Matarazzo (Torino), Antonella Meloni (Cagliari), Renato Pasquali (Bologna), Roberto Perniola (Lecce), Giuseppe Picca (Foggia), Paolo Porcelli (Palermo), Giorgio Radetti (Bolzano), Bernard Rees Smith (Cardiff), Beatrice Rubin (Padova), Gianni Russo (Milano), Maria Carolina Salerno (Napoli), Giovanna Weber (Milano).

This study was supported in part by the EU Research Project EurAPS: Autoimmune polyendocrine syndrome type I—a rare disorder of childhood as a model for autoimmunity, contract number LSHMCT 2005-005223.

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Authors and Affiliations

  1. Dipartimento di Medicina, U.O.C. di Endocrinologia, Azienda Ospedaliera Universitaria Padova, Via Ospedale 105, 35128, Padova, Italia

    Corrado Betterle, Monica Salvà, Chiara Sabbadin & Silvia Garelli

Authors
  1. Corrado Betterle
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  2. Monica Salvà
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  3. Chiara Sabbadin
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  4. Silvia Garelli
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Corresponding author

Correspondence to Corrado Betterle.

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Conflitto di interesse

Gli autori Corrado Betterle, Monica Salvà, Chiara Sabbadin e Silvia Garelli dichiarano di non avere conflitti di interesse.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

Additional information

Proposta da Corrado Betterle.

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Betterle, C., Salvà, M., Sabbadin, C. et al. La sindrome poliendocrina autoimmune di tipo 1 in Italia. L'Endocrinologo 17, 10–20 (2016). https://doi.org/10.1007/s40619-016-0169-y

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