Results 81 to 90 of about 168,848 (280)

Autoinflammatory diseases in Pediatrics

Archivos Argentinos de Pediatria, 2013
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical
Silvia M, Meiorin, Graciela, Espada, Carlos, Rosè   +2 more
openaire   +4 more sources

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]

, 2015
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N., Gioia, S.A., Hofer, M., Rivolta, C., Superti-Furga, A., Vanoni, F., von Scheven-Gête, A.   +6 more
core   +3 more sources

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Clustering reveals diagnostic overlap between Still’s disease and a hyperinflammatory subset of seronegative rheumatoid arthritis

Scientific Reports
Still’s disease (SD) and rheumatoid arthritis (RA), particularly seronegative RA, may overlap clinically and biologically, complicating diagnosis. We explored data-driven overlaps between SD, seronegative RA, and seropositive RA using unsupervised ...
Alexandre Mercier-Guery, Thomas El-Jammal, Nour El-Nayef, Emmanuel Massy, Nicolas Fournier, Pascal Sève, Cyrille Confavreux, Yvan Jamilloux, Fabienne Coury   +8 more
doaj   +1 more source

Role of Inner Ear Macrophages and Autoimmune/Autoinflammatory Mechanisms in the Pathophysiology of Inner Ear Disease

Frontiers in Neurology, 2022
Macrophages play important roles in tissue homeostasis and inflammation. Recent studies have revealed that macrophages are dispersed in the inner ear and may play essential roles in eliciting an immune response.
Toru Miwa, Toru Miwa, Takayuki Okano
doaj   +1 more source

Genetically defined autoinflammatory diseases [PDF]

Oral Diseases, 2016
Autoinflammatory diseases are hyperinflammatory, immune dysregulatory conditions that typically present in early childhood with fever and rashes and disease‐specific patterns of organ inflammation. This review provides a historic background of autoinflammatory disease research, an overview of the currently genetically defined autoinflammatory diseases,
A A, de Jesus, R, Goldbach-Mansky
openaire   +2 more sources

A Multifaceted Interplay Among Hemophagocytosis, Interleukin‐18, and Type I Interferon Distinguishes Still Disease From Other Autoinflammatory Diseases

Arthritis &Rheumatology, EarlyView.
Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller, Charlotte Girard, Harmen J. G. van de Werken, Stefan J. Erkeland, Dwin G. B. Grashof, Laurie Vaillant, Renske J. H. den Dekker, Iris van Zuijen, Sharon Veenbergen, Fanny Coffin, Eric Bindels, Yvan Jamilloux, Katerina Laskari, Vassili Soumelis, Bruno Fautrel, Cem Gabay, Peter D. Katsikis   +16 more
wiley   +1 more source

PEPITEM Regulates the Synovial Microenvironment During Immune‐Mediated Inflammatory Arthritis to Limit Disease

Arthritis &Rheumatology, EarlyView.
Objective Here we investigate the status of the adiponectin–PEPITEM pathway in early, treatment naive rheumatoid arthritis (RA) and psoriatic arthritis (PsA) and the therapeutic efficacy of PEPITEM administration in preclinical models. Methods Peripheral blood was isolated from patients with clinical suspect arthralgia and suspected inflammatory ...
Mussarat Wahid, Samuel Kemble, Oladimeji Abudu, Anella Saviano, Christopher Mahony, Jonathan W. Lewis, Thomas A. Nicholson, Anna Schettino, Noemi Marigliano, Kathryn Frost, Jenefa Begum, Alyssa M. Urbanowski, Marion Limo, Rakesh Jha, Sandra Martinez Jarquin, Laleh Pezhman, Abbie E. A. Degan, Amy E. Anderson, Charlotte G. Smith, Armaiti Batki, Holly Adams, Francesco Caso, Raffaele Scarpa, Iain McInnes, Stefan Siebert, Arthur G. Pratt, Andrew Filer, Karim Raza, Adam P. Croft, Myriam Chimen, Felicity de Cogan, G. Ed Rainger, Asif J. Iqbal, Francesco Maione, Helen M. McGettrick   +34 more
wiley   +1 more source

Predictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF)

RMD Open
Introduction: Syndrome of undifferentiated recurrent fever (SURF) refers to a group of recurrent fevers without a clear monogenic cause. Clinical spectrum, treatment response predictors and management strategies remain unclear. Objective: This study aims
Marco Gattorno, Isabella Ceccherini, Riccardo Papa, Roberta Caorsi, Federica Penco, Stefano Volpi, Marta Ponzano, Marta Bustaffa, Ignazia Prigione, Saverio La Bella, Caterina Matucci-Cerinic, Serena Palmeri, Giada Recchi, Chiara Conti, Diana Sutera, Roberta Bertelli   +15 more
doaj   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source