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The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases [PDF]

Frontiers in Medicine, 2022
ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance ...
Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, Gaafar Ragab, Gaafar Ragab, Emma Aragona, Ewa Wiesik-Szewczyk, Djouher Ait-Idir, Giovanni Conti, Ludovica Iezzi, Maria Cristina Maggio, Marco Cattalini, Francesco La Torre, Giuseppe Lopalco, Elena Verrecchia, Elena Verrecchia, Amato de Paulis, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P. Sfikakis, Achille Marino, Micol Frassi, Benson Ogunjimi, Benson Ogunjimi, Benson Ogunjimi, Benson Ogunjimi, Daniela Opris-Belinski, Paola Parronchi, Giacomo Emmi, Farhad Shahram, Francesco Ciccia, Matteo Piga, José Hernández-Rodríguez, Rosa Maria R. Pereira, Maria Alessio, Roberta Naddei, Alma Nunzia Olivieri, Emanuela Del Giudice, Paolo Sfriso, Piero Ruscitti, Francesca Li Gobbi, Hamit Kucuk, Jurgen Sota, Mohamed A. Hussein, Giuseppe Malizia, Karina Jahnz-Różyk, Rawda Sari-Hamidou, Mery Romeo, Francesca Ricci, Fabio Cardinale, Florenzo Iannone, Francesca Della Casa, Marco Francesco Natale, Katerina Laskari, Teresa Giani, Franco Franceschini, Vito Sabato, Derya Yildirim, Valeria Caggiano, Mohamed Tharwat Hegazy, Mohamed Tharwat Hegazy, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, Ibrahim A. Almaghlouth, Ibrahim A. Almaghlouth, Ahmed Hatem Laymouna, Violetta Mastrorilli, Laura Dotta, Luca Benacquista, Salvatore Grosso, Francesca Crisafulli, Veronica Parretti, Heitor F. Giordano, Ayman Abdel-Monem Ahmed Mahmoud, Rossana Nuzzolese, Marta De Musso, Cecilia Beatrice Chighizola, Cecilia Beatrice Chighizola, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A. Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Merav Lidar, Merav Lidar, Donato Rigante, Donato Rigante, Luca Cantarini   +103 more
doaj   +14 more sources

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases [PDF]

Frontiers in Ophthalmology
Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity.
Alex Fonollosa, Alex Fonollosa, Ester Carreño, Ester Carreño, Antonio Vitale, Ankur K. Jindal, Athimalaipet V. Ramanan, Laura Pelegrín, Borja Santos-Zorrozua, Verónica Gómez-Caverzaschi, Luca Cantarini, Claudia Fabiani, José Hernández-Rodríguez   +12 more
doaj   +4 more sources

The autoinflammatory diseases

Swiss Medical Weekly, 2012
The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an
Silvia Federici, Roberta Caorsi, Marco Gattorno   +2 more
doaj   +4 more sources

Autoinflammatory diseases: what’s behind them and what’s new. A review [PDF]

Dermatology Reports, 2022
Autoinflammatory diseases are characterized by bouts of systemic or localized inflammation in the absence of an infection. While some autoinflammatory diseases are caused by a single gene mutation, others have been shown to be multifactorial, involving ...
Michele Maalouly, Serena Saade, Mazen Kurban   +2 more
doaj   +2 more sources

Autoinflammatory Bone Diseases

Balkan Medical Journal
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology.
Fatih Haşlak, Nergis Akay, Ümit Gül, Aybüke Günalp, Elif Kılıç Könte, Sezgin Şahin, Özgür Kasapçopur   +6 more
doaj   +4 more sources

Autoinflammatory diseases: Emerging phenotypes

Indian Journal of Rheumatology, 2020
Autoinflammatory diseases (AIDs) are a heterogeneous group of genetically inherited disorders involving genes regulating innate immune response. The genetic basis of several AIDs has been characterized and many new syndromes have been identified in the ...
Gummadi Anjani, Surjit Singh, Amit Rawat
doaj   +2 more sources

γδ T Cells in Autoinflammatory Diseases [PDF]

Cells
Autoinflammatory diseases are characterized by inappropriate activation of innate immunity resulting in excessive or persistent inflammation in the absence of infection.
Ilan Bank
doaj   +2 more sources

Autoinflammatory diseases and the kidney. [PDF]

Immunol Res, 2023
Hegazy MT, Fayed A, Nuzzolese R, Sota J, Ragab G.   +4 more
europepmc   +3 more sources

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases. [PDF]

Front Immunol, 2023
Nomani H, Deng Z, Navetta-Modrov B, Yang J, Yun M, Aroniadis O, Gorevic P, Aksentijevich I, Yao Q.   +8 more
europepmc   +3 more sources

Autoinflammatory Diseases: A Review [PDF]

The Journal of Rheumatology
Autoinflammatory disease (AID) is a vast spectrum of disorders characterized by recurrent attacks of sterile inflammation. Since the first cloning of the familial Mediterranean fever gene in 1997, there has been a rapid rate of discovery of new AIDs.
Jason An, Ashish Marwaha, Ronald M. Laxer   +2 more
openalex   +3 more sources