Results 51 to 60 of about 159,270 (192)

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence.
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann   +7 more
doaj   +1 more source

Autoinflammatory diseases [PDF]

Clinical pharmacology and therapy, 2020
Autoinflammatory diseases are a group of disorders caused by a dysregulation of the innate immune system. Unlike autoimmune diseases, they are not associated with changes in humoral or cellular immunity. The authors review the current classification, clinical manifestations and treatment of various systemic autoinflammatory diseases, including ...
V.V. Rameev, L.V. Lysenko (Kozlovskaya), M.V. Bogdanova, S.V. Moiseev   +3 more
openaire   +1 more source

Optimizing Hydroxychloroquine Blood Levels and Long‐Term Hydroxychloroquine Intake Could Lower Atherosclerotic Cardiovascular Disease Risk and Prevent Polypharmacy in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is the cornerstone of systemic lupus erythematosus (SLE) management with benefits extending beyond SLE control, including protection against atherosclerotic cardiovascular disease (ASCVD). Although HCQ blood levels reflect recent exposure and long‐term intake reflects medication adherence, the impact of longitudinal ...
Shivani Garg, Murray Urowitz, Charlie Dentz, Niriti Adhikari, Fauzia Hollnagel, Nathalie Costedoat‐Chalumeau   +5 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot

Molecules, 2021
Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic, autoinflammatory disease caused by the loss of functional homozygous or heterozygous mutations in the ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1).
Alessia Cafaro, Federica Pigliasco, Sebastiano Barco, Federica Penco, Francesca Schena, Roberta Caorsi, Stefano Volpi, Gino Tripodi, Marco Gattorno, Giuliana Cangemi   +9 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +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

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

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

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