Results 1 to 10 of about 165,261 (263)

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

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 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

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]

, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul, Berman, Robert F, Careaga, Milo, Hagerman, Randi, Rose, Destanie, Tassone, Flora   +5 more
core   +19 more sources

Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells

Children, 2021
Autoinflammatory diseases are a disease entity caused by the dysregulation of innate immune cells. Typical autoinflammatory diseases are monogenic disorders and often very rare.
Megumu K. Saito
doaj   +1 more source

The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review

Frontiers in Immunology, 2020
Purpose: Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis.
Véronique Hentgen, Caroline Vinit, Antoine Fayand, Sophie Georgin-Lavialle   +3 more
doaj   +1 more source

Bridging autoinflammatory and autoimmune diseases

The Egyptian Journal of Internal Medicine, 2021
Background Autoimmunity is used to cause by impairment of adaptive immunity alone, whereas autoinflammatory was originally defined as a consequence of unregulated innate immunity.
Emad M. El-Shebiny, Enas S. Zahran, Sabry A. Shoeib, Eman S. Habib   +3 more
doaj   +1 more source

Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds

Frontiers in Immunology, 2020
“Autoinflammatory disease (AiD)” has first been introduced in 1999 when the responsible gene for the familial Hibernean fever or autosomal dominant-type familial Mediterranean fever-like periodic fever syndrome was reportedly identified as tumor necrosis
Nobuo Kanazawa
doaj   +1 more source