Results 31 to 40 of about 148,918 (213)

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

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   +12 more sources

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

Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven, N. Satyadev, A. E. M. Bastiaansen, Y. D. Piura, J. Kerstens, Y. S. Crijnen, J. Brenner, T. Brand, T. M. Bienfait, S. Veenbergen, J. M. de Vries, F. J. de Jong, E. G. P. Dopper, P. A. E. Sillevis Smitt, H. Seelaar, G. S. Day, M. J. Titulaer   +16 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

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

Claustrum Involvement in New Onset Refractory Status Epilepticus: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The claustrum sign is a distinctive neuroimaging finding characterized by bilateral T2/FLAIR hyperintensity of the claustrum, one of the most interconnected regions of the human brain. It was first described in new‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES).
Margherita Burani, Lorenzo Muccioli, Giada Giovannini, Niccolò Orlandi, Francesca Bisulli, Stefano Meletti   +5 more
wiley   +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

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