Results 31 to 40 of about 147,251 (203)

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis

RMD Open, 2022
Objectives Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA) include innate immunity loci, which suggests an autoinflammatory disease mechanism, at least in a subset of patients.
Torsten Witte, Georgios Sogkas, Natalia Dubrowinskaja, Manfred Anim, Faranaz Atschekzei, Thea Thiele   +5 more
doaj   +1 more source

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Pediatric Rheumatology Online Journal, 2017
Background Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan   +6 more
doaj   +1 more source

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

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   +1 more source

Recommendations for the management of autoinflammatory diseases [PDF]

Annals of the Rheumatic Diseases, 2015
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens ...
Ter Haar, Nienke M, Oswald, Marlen, Jeyaratnam, Jerold, Anton, Jordi, Barron, Karyl S, Brogan, Paul A, CANTARINI, LUCA, Galeotti, Caroline, Grateau, Gilles, Hentgen, Veronique, Hofer, Michael, Kallinich, Tilmann, Kone Paut, Isabelle, Lachmann, Helen J, Ozdogan, Huri, Ozen, Seza, Russo, Ricardo, Simon, Anna, Uziel, Yosef, Wouters, Carine, Feldman, Brian M, Vastert, Sebastiaan J, Wulffraat, Nico M, Benseler, Susanne M, Frenkel, Joost, Gattorno, Marco, Kuemmerle Deschner, Jasmin B.   +26 more
openaire   +13 more sources

Physician‐Scientist Pipeline for Pediatric Rheumatology: The Current Landscape and Future Perspectives

Arthritis Care &Research, EarlyView.
Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu, Linda T. Hiraki, Mara L. Becker   +2 more
wiley   +1 more source

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

High Humidity Exacerbates Psoriasiform Skin Disease Relapse by Increasing Tissue‐Resident Memory T Cells via Altering Skin Microbiota

Advanced Science, EarlyView.
We demonstrated that high humidity worsened psoriasis relapse in murine psoriasiform skin inflammation by increasing skin‐resident memory CD8+ cells via upregulating IL‐15Rα on keratinocytes. The increases in IL‐15Rα and memory CD8+ cells were attributed to S. nepalensis and its metabolite ADMA in skin exposed to high humidity.
Chun‐Ling Liang, Yuchao Chen, Chuanjian Lu, Huazhen Liu, Fenglian Qin, Sisi Dai, Feifei Qiu, Haiming Chen, Weihui Lu, Jonathan S. Bromberg, Zhenhua Dai   +10 more
wiley   +1 more source

Pustular Eruptions in Children as Manifestations of Autoinflammatory Diseases

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Nowadays, in clinical practice, when attending a child with a pustular eruption and systemic inflammation, it is mandatory to think of an autoinflammatory disease, once infectious causes have been ruled out.
Felicidade Santiago, Antonio Torrelo
doaj   +1 more source

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