Results 71 to 80 of about 178,684 (248)

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype [PDF]

, 2016
Autoinflammatory disorders (AID) are a heterogeneous group of diseases, characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever1-3.
Blokx, W. A. M., Boes, M., de Koning, H. D., de Kovel, C., Frenkel, J., Giltay, J., Oberndorff, K., Schalkwijk, J., Simon, A., van Gijn, M. E., van Kempen, T. S., van Steensel, M. A. M., van Well, G. T. J., Volker-Touw, C. M. L.   +13 more
core   +2 more sources

Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications

Frontiers in Cardiovascular Medicine
Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating in various clinical signs and symptoms ...
Hibba Kurdi, Hibba Kurdi, Lucia Lavalle, Lucia Lavalle, James C. C. Moon, James C. C. Moon, Derralynn Hughes, Derralynn Hughes   +7 more
doaj   +1 more source

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

The Interactions Between Autoinflammation and Type 2 Immunity: From Mechanistic Studies to Epidemiologic Associations

Frontiers in Immunology, 2022
Autoinflammatory diseases are a group of clinical syndromes characterized by constitutive overactivation of innate immune pathways. This results in increased production of or responses to monocyte- and neutrophil-derived cytokines such as interleukin-1β (
McKella Sylvester, Aran Son, Daniella M. Schwartz   +2 more
doaj   +1 more source

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

Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. [PDF]

, 2018
BACKGROUND: The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in the setting of primary hemophagocytic lymphohistiocytosis ...
Bracaglia, Claudia, Caiello, Ivan, Chatel, Laurence, De Min, Cristina, Fabrizio De Benedetti, And, Ferlin, Walter G., Grom, Alexei A., Marasco, Emiliano, Pascarella, Antonia, Prencipe, Giusi, Strippoli, Raffaele   +10 more
core   +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

Autoinflammatory syndromes: diagnosis and management [PDF]

, 2010
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and ...
Sara De Sanctis, Manuela Nozzi, Marianna Del Torto, Alessandra Scardapane, Stefania Gaspari, Giuseppina de Michele, Luciana Breda, Francesco Chiarelli   +7 more
core   +2 more sources

Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)

Molecular Genetics & Genomic Medicine, 2019
Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS).
Apostolos Kontzias, Samaneh K. Zarabi, Cassandra Calabrese, Yan Wang, LuAnn Judis, QingPing Yao, Yu‐Wei Cheng   +6 more
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