Results 41 to 50 of about 2,214,075 (211)

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

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

Autoinflammatory Diseases in Childhood

, 2020
Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of impaired natural immunity and can involve various organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever
KASAPÇOPUR, Özgür, Yildiz, Mehmet, BARUT, Kenan, ADROVIC YILDIZ, Amra, HAŞLAK, Fatih   +4 more
core   +1 more source

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

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (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.
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.
Balci-Peynircioglu, BANU, Touitou, Isabelle, Swertz, Morris A., Milhavet, Florian, Hoffman, Hal M., Omoyimni, Ebun, Rowczenio, Dorota, Sarrabay, Guillaume, Arostegui, Juan I., Slofstra, Mariska, Carbo, Ellen C., Shinar, Yael, Ceccherini, Isabella, Van Gijn, Marielle E.   +13 more
openaire   +4 more sources

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

Validation of Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric Measures for Children With Chronic Nonbacterial Osteomyelitis

Arthritis Care &Research, EarlyView.
Objective To assess the validity of the Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric measures in patients with chronic nonbacterial osteomyelitis (CNO). Methods Within the longitudinal patient registry of CNO, English‐speaking patients aged 8 years and older self‐reported PROMIS Pediatric measures of fatigue, pain ...
Mary M. Eckert, Eveline Y. Wu, Melissa Oliver, Joshua Scheck, Sivia Lapidus, Ummusen Kaya Akca, Shima Yasin, Aleksander Lenert, Sara Stern, Antonella Insalaco, Manuela Pardeo, Gabriele Simonini, Edoardo Marrani, Xing Wang, Bin Huang, Leonard K. Kovalick, Natalie Rosenwasser, Erin Balay‐Destrude, Gabriel Casselman, Adriel Liau, Ava Klein, Yurong Shao, Claire Yang, Molly Briggs, Ethan Mueller, Emily Deng, Paige Rhiannon Trunnell, Iris Hamilton, Elise Machrone, Doaa Mosad Mosa, Lori Tucker, Hermann Girschick, Ronald M. Laxer, Georgina Tiller, Jonathan Akikusa, Christian M. Hedrich, Karen Onel, Fatma Dedeoglu, Marinka Twilt, Seza Ozen, Polly J. Ferguson, Laura Schanberg, Bryce B. Reeve, Yongdong Zhao   +43 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

The laboratory approach in the diagnosis of systemic autoinflammatory diseases

Reumatismo, 2011
Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin ...
B. Frediani, M. Galeazzi, O.M. Lucherini, G.D. Sebastiani, D. Rigante, M.G. Brizi, L. Cantarini   +6 more
doaj   +1 more source