Results 1 to 10 of about 157,886 (186)

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

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease [PDF]

Frontiers in Immunology, 2022
Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory ...
Fabian Lötscher, Luca Seitz, Helena Simeunovic, Adela-Cristina Sarbu, Naomi A. Porret, Laurence Feldmeyer, Luca Borradori, Nicolas Bonadies, Nicolas Bonadies, Britta Maurer   +9 more
doaj   +2 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

Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge, Bilginer, Yelda, Özen, Seza   +2 more
openaire   +2 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

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   +1 more source

Autoinflammatory keratinization diseases [PDF]

Journal of Allergy and Clinical Immunology, 2017
Inflammation caused by the hyperactivation of innate immunity due to genetic factors occasionally leads to inflammatory cutaneous keratinization diseases. Such inflammatory keratinization diseases with genetic autoinflammatory mechanisms are called “autoinflammatory keratinization diseases” (AiKDs). We proposed a four-part definition of AiKDs.
Akiyama, Masashi, Takeichi, Takuya, McGrath, John A., Sugiura, Kazumitsu   +3 more
openaire   +4 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

Systemic autoinflammatory diseases

Journal of Autoimmunity, 2020
Systemic autoinflammatory diseases (SAIDs) are a growing group of disorders caused by a dysregulation of the innate immune system leading to episodes of systemic inflammation. In 1997, MEFV was the first gene identified as disease causing for Familial Mediterranean Fever, the most common hereditary SAID.
Krainer, Julie, Siebenhandl, Sandra, Weinhäusel, Andreas   +2 more
openaire   +2 more sources

Monogenic autoinflammatory diseases [PDF]

Rheumatology, 2014
During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system.
Ricardo A G, Russo, Paul A, Brogan
openaire   +2 more sources