Results 31 to 40 of about 305 (109)

THU0516 FIFTEEN CASES OF 3 NLR FAMILY MEMBERS (NLRP3, NLRP12 AND NLRC4) RELATED INFLAMMASOMOPATHIES IN A SINGLE CENTER OF CHINA [PDF]

Annals of the Rheumatic Diseases, 2020
Background: There are four members in NLR family, NLRP3, NLRC4, NLRP1, and NLRP12, the mutations of which can lead to autoinflammatory diseases, while little reports describe those diseases in Chinese population. Objectives: To report several cases of NLR-related autoinflammatory diseases in our center and to compare the differences of the ...
W. Wang, Y. Zhou, H. Song
openaire   +1 more source

Innately Adaptive or Truly Autoimmune: Is There Something Unique About Systemic Juvenile Idiopathic Arthritis?

Arthritis &Rheumatology, Volume 72, Issue 2, Page 210-219, February 2020., 2020
Systemic juvenile idiopathic arthritis (JIA) is a form of arthritis in childhood that is initially dominated by innate immunity–driven systemic inflammation and is thus considered a polygenic autoinflammatory disease. However, systemic JIA can progress toward an adaptive immunity–driven afebrile arthritis.
Christoph Kessel, Christian M. Hedrich, Dirk Foell   +2 more
wiley   +1 more source

TNF/TNFR axis promotes pyrin inflammasome activation and distinctly modulates pyrin inflammasomopathy [PDF]

Journal of Clinical Investigation, 2018
Pyrin is an inflammasome sensor that promotes caspase-1-mediated pyroptotic cell death and maturation of proinflammatory cytokines IL-1β and IL-18. Familial Mediterranean fever (FMF), an autoinflammatory disorder, is associated with mutations in the gene encoding pyrin (MEFV).
Deepika Sharma, Ankit Malik, Clifford Guy, Peter Vogel, Thirumala-Devi Kanneganti   +4 more
openaire   +2 more sources

SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy [PDF]

Journal of the Endocrine Society, 2020
Abstract Background: Acquired generalized lipodystrophy (AGL) is characterized by near-total fat loss that develops after birth. Although the molecular pathogenesis of AGL is unclear, there is a link to autoimmunity and inflammation. Notably, the panniculitis associated variety of AGL may present with subcutaneous inflammatory nodules ...
Brandao, Marjorie Azevedo Jales, de Freitas, Maria Cristina Foss, Akinci, Baris, Hannibal, Mark, Walkovich, Kelly, Oral, Elif A   +5 more
openaire   +1 more source

Poly (I:C) and hyaluronic acid directly interact with NLRP3, resulting in the assembly of NLRP3 and ASC in a cell-free system

European Journal of Inflammation, 2017
In the NLR family, pyrin domain containing 3 (NLRP3) is an intracellular pattern recognition receptor that activates pro-caspase-1, leading to IL-1β and IL-18 processing and activation in a large complex called the NLRP3 inflammasome.
Naoe Kaneko, Yuki Ito, Tomoyuki Iwasaki, Hiroyuki Takeda, Tatsuya Sawasaki, Kiyoshi Migita, Kazunaga Agematsu, Tomohiro Koga, Atsushi Kawakami, Akihiro Yachie, Koh-ichiro Yoshiura, Shinnosuke Morikawa, Mie Kurata, Junya Masumoto   +13 more
doaj   +1 more source

Suppression of Neutrophil‐Mediated Tissue Damage—A Novel Skill of Mesenchymal Stem Cells

STEM CELLS, Volume 34, Issue 9, Page 2393-2406, September 2016., 2016
Scheme of adaptive mesenchymal stem cell (MSC) responses to unrestrained neutrophil activation. Immune complexes inside and outside the vessel lead to unrestrained neutrophil activation with enhanced generation and release of . which can stimulate neutrophil extracellular trap formation with expulsion of chromatin decorated with granules and highly ...
Dongsheng Jiang, Jana Muschhammer, Yu Qi, Andrea Kügler, Juliane C. de Vries, Mona Saffarzadeh, Anca Sindrilaru, Seppe Vander Beken, Meinhard Wlaschek, Mark A. Kluth, Christoph Ganss, Natasha Y. Frank, Markus H. Frank, Klaus T. Preissner, Karin Scharffetter‐Kochanek   +14 more
wiley   +1 more source

Clinical Genetic Testing of Periodic Fever Syndromes

BioMed Research International, Volume 2013, Issue 1, 2013., 2013
Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple ...
Annalisa Marcuzzi, Elisa Piscianz, Giulio Kleiner, Alberto Tommasini, Giovanni Maria Severini, Lorenzo Monasta, Sergio Crovella, Ozgur Cogulu   +7 more
wiley   +1 more source

Challenges in the Diagnosis of Infantile Enterocolitis and Rare Auto‐Inflammatory Syndromes: A Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Auto‐inflammatory diseases can exhibit a wide variety of clinical symptoms, which often result in delays in diagnosis and treatment for patients. Intestinal inflammation is a clinical symptom frequently observed in auto‐inflammatory syndromes.
Maryam Khalesi, Saeedeh Vahedi, Seyedsepehr Jafari, Abdolreza Malek, Hamid Reza Kianifar, Mahdieh Vahedi   +5 more
wiley   +1 more source

Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis

Zdorovʹe Rebenka
Systemic autoinflammatory diseases (SAIDs) are a group of inherited monogenic diseases characterized by dysregulated innate immunity leading to excessive activation of inflammatory pathways.
O.V. Shvaratska, M.V. Kalichevska, O.V. Klymenko, O.M. Taran, O.V. Klimova, Y.V. Vilenskyi, T.M. Plekhanova, T.K. Mavropulo   +7 more
doaj   +1 more source

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases

The FEBS Journal, Volume 291, Issue 20, Page 4414-4432, October 2024.
Dysregulation and hyperactivation of innate immune responses can lead to the onset of systemic autoinflammatory diseases, caused by inborn genetic errors alone, or in combination with non‐genetic factors. Innate immune memory (trained immunity) is physiologically beneficial, but can become maladaptive, perpetuating chronic inflammatory activation. Here,
Laura M. Merlo Pich, Athanasios Ziogas, Mihai G. Netea   +2 more
wiley   +1 more source