Results 1 to 10 of about 147,251 (203)

Macroglobulinemia and Autoinflammatory Disease. [PDF]

Rheumatol Immunol Res, 2021
Abstract Macroglobulinemia is associated with Schnitzler syndrome (SchS) and Waldenstrom macroglobulinemia (WM). The aim of this article was to review the above-mentioned two diseases from clinical aspects and their potential genetic links. We performed a PubMed search using the following keywords: “SchS,” “WM,” “autoinflammatory disease,
Navetta-Modrov B, Yao Q.
europepmc   +4 more sources

Somatic Mutations and the Risk of Undifferentiated Autoinflammatory Disease in MDS: An Under-Recognized but Prognostically Important Complication

Frontiers in Immunology, 2021
Objectives: We theorized that myelodysplastic syndrome (MDS) with somatic mutations and karyotype abnormalities are associated with autoinflammation, and that the presence of autoinflammatory disease affected prognosis in MDS.Methods: One hundred thirty ...
Abdulla Watad, Abdulla Watad, Mark Kacar, Mark Kacar, Nicola Luigi Bragazzi, Qiao Zhou, Qiao Zhou, Miriam Jassam, Jan Taylor, Eve Roman, Alexandra Smith, Richard A. Jones, Howard Amital, Catherine Cargo, Dennis McGonagle, Sinisa Savic, Sinisa Savic   +16 more
doaj   +3 more sources

The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

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 (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture ...
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
openaire   +14 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

An Update on Autoinflammatory Diseases [PDF]

Current Medicinal Chemistry, 2013
Autoinflammatory diseases area group of clinical conditions other than autoimmune diseases, characterized by recurrent inflammatory episodes. From apathogenetic point of view they are determined by a dys regulation of innate immunity, without involvement of specific immunity (auto reactive T cells and auto antibodies). Recently, the increased knowledge
Ciccarelli F, DE MARTINIS, MASSIMO MARIA MARCELLO, GINALDI, Lia   +2 more
openaire   +3 more sources

The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene

Frontiers in Pediatrics, 2023
Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature ...
M. Debeljak, M. Debeljak, S. Blazina, J. Brecelj, J. Brecelj, T. Avčin, T. Avčin, N. Toplak, N. Toplak   +8 more
doaj   +1 more source

Autoinflammatory disease in the lung [PDF]

Immunology, 2018
SummaryAscertaining the dominant cell type driving an immunological disease is essential to understanding the causal pathology and, therefore, selecting or developing an effective treatment. Classifying immunological diseases in this way has led to successful treatment regimens for many monogenic diseases; however, when the dominant cell type is ...
Scambler, T, Holbrook, J, Savic, S, McDermott, MF, Peckham, D   +4 more
openaire   +4 more sources

Long-Term Outcomes of Behçet’s Syndrome-Related Uveitis: A Monocentric Italian Experience

Mediators of Inflammation, 2020
Objectives. To examine demographic and clinical characteristics and long-term visual outcome in a cohort of Italian patients affected by Behçet’s uveitis (BU). Materials and Methods.
Jurgen Sota, Luca Cantarini, Antonio Vitale, Arianna Sgheri, Stefano Gentileschi, Valeria Caggiano, Viviana Gelardi, Bruno Frediani, Gian Marco Tosi, Claudia Fabiani   +9 more
doaj   +1 more source

Real-Life Data on the Efficacy of Canakinumab in Patients with Adult-Onset Still’s Disease

Mediators of Inflammation, 2020
Background. Interleukin-1 inhibition has revealed to be a successful treatment approach for patients with adult-onset Still’s disease (AOSD). However, real-life experience is focused on the use of anakinra, while data about canakinumab (CAN) are mainly ...
Antonio Vitale, Virginia Berlengiero, Jurgen Sota, Luisa Ciarcia, Nicola Ricco, Sara Barneschi, Mariam Mourabi, Giuseppe Lopalco, Chiara Marzo, Francesca Bellisai, Florenzo Iannone, Bruno Frediani, Luca Cantarini   +12 more
doaj   +1 more source

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 early onset.
S Federici, R Caorsi, M Gattorno
openaire   +5 more sources