Results 31 to 40 of about 10,022 (165)

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

Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

Frontiers in Neurology, 2023
IntroductionAutosomal dominant mutations in the C-terminal part of TREX1 (pVAL235Glyfs*6) result in fatal retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) without any treatment options.
Friederike Ufer, Susanne M. Ziegler, Marcus Altfeld, Manuel A. Friese   +3 more
doaj   +1 more source

Untangling the Web of Systemic Autoinflammatory Diseases

Mediators of Inflammation, 2014
The innate immune system is involved in the pathophysiology of systemic autoinflammatory diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of proinflammatory cytokines, such as interleukin-1β and tumor necrosis factor-α,
Donato Rigante, Giuseppe Lopalco, Antonio Vitale, Orso Maria Lucherini, Francesco Caso, Caterina De Clemente, Francesco Molinaro, Mario Messina, Luisa Costa, Mariangela Atteno, Franco Laghi-Pasini, Giovanni Lapadula, Mauro Galeazzi, Florenzo Iannone, Luca Cantarini   +14 more
doaj   +1 more source

A Brief History of IL-1 and IL-1 Ra in Rheumatology

Frontiers in Pharmacology, 2017
The history of what, in 1979, was called interleukin-1 (IL-1), orchestrator of leukocyte inter-communication, began many years before then, initially by the observation of fever induction via the endogenous pyrogen (EP) (1974) and then in rheumatology on
Jean-Michel Dayer, Francesca Oliviero, Leonardo Punzi   +2 more
doaj   +1 more source

Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review

Frontiers in Immunology, 2021
BackgroundInterleukin (IL)-1 inhibitors represent the main treatment in patients with colchicine-resistant/intolerant familial Mediterranean fever (crFMF), mevalonate kinase deficiency (MKD), and tumor necrosis factor receptor-associated periodic ...
Caroline Vinit, Caroline Vinit, Sophie Georgin-Lavialle, Sophie Georgin-Lavialle, Aikaterini Theodoropoulou, Aikaterini Theodoropoulou, Catherine Barbier, Alexandre Belot, Alexandre Belot, Manel Mejbri, Manel Mejbri, Pascal Pillet, Jana Pachlopnik, Sylvaine Poignant, Charlotte Rebelle, Andreas Woerner, Isabelle Koné-Paut, Isabelle Koné-Paut, Véronique Hentgen, Véronique Hentgen   +19 more
doaj   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, Accepted Article.
Objective VEXAS syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures. A VEXAS‐specific disease activity index (DAI) is an essential tool for reliably capturing changes in disease ...
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Journal of Medical Genetics, 2018
Background Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.
Van Gijn, Marielle E., Ceccherini, Isabella, Shinar, Yael, Carbo, Ellen C., Slofstra, Mariska, Arostegui, Juan I., Sarrabay, Guillaume, Rowczenio, Dorota, Omoyimni, Ebun, Balci-Peynircioglu, Banu, Hoffman, Hal M., Milhavet, Florian, Swertz, Morris A., Touitou, Isabelle   +13 more
openaire   +3 more sources

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

Arthritis Care &Research, Accepted Article.
Background Hydroxychloroquine (HCQ) is the cornerstone of systemic lupus erythematosus (SLE) management with benefits extending beyond SLE control, including protection against atherosclerotic cardiovascular disease (ASCVD). While 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

Familial Mediterranean fever: What associations to screen for?

Rheumatology, 2020
Familial Mediterranean fever (FMF) is the most common and best known of hereditary recurrent fever or periodic fever syndromes. It was described in 1945 and genetically characterized in 1992.
Salem Bouomrani, Ines Masmoudi, Sawssan Ben Teber   +2 more
doaj   +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