Results 61 to 70 of about 171,535 (264)

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

Mortality in Antinuclear Antibody-Positive Patients with and Without Rheumatologic Immune-Related Disorders: A Large-Scale Population-Based Study

Medicina
Background & Objectives: To explore the potential association between positive ANA serology and all-cause mortality in a large cohort of patients, including those with and without rheumatological conditions and other immune-related diseases. Material and
Uria Shani, Paula David, Ilana Balassiano Strosberg, Ohad Regev, Mohamad Yihia, Niv Ben-Shabat, Dennis McGonagle, Orly Weinstein, Howard Amital, Abdulla Watad   +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

Autoinflammatory diseases in Pediatrics

Archivos Argentinos de Pediatria, 2013
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical
Silvia M, Meiorin, Graciela, Espada, Carlos, Rosè   +2 more
openaire   +4 more sources

Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine

Frontiers in Immunology
VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation
Roberto Pereira da Costa, Roberto Pereira da Costa, Guilherme Sapinho, Guilherme Sapinho, Matilde Bandeira, Matilde Bandeira, Joana Infante, Joana Infante, Tiago Marques, Carla Mimoso Santos, João Forjaz de Lacerda, João Forjaz de Lacerda, João Eurico Fonseca, João Eurico Fonseca, José Carlos Romeu   +14 more
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

Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications

Frontiers in Cardiovascular Medicine
Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating in various clinical signs and symptoms ...
Hibba Kurdi, Hibba Kurdi, Lucia Lavalle, Lucia Lavalle, James C. C. Moon, James C. C. Moon, Derralynn Hughes, Derralynn Hughes   +7 more
doaj   +1 more source

The Interactions Between Autoinflammation and Type 2 Immunity: From Mechanistic Studies to Epidemiologic Associations

Frontiers in Immunology, 2022
Autoinflammatory diseases are a group of clinical syndromes characterized by constitutive overactivation of innate immune pathways. This results in increased production of or responses to monocyte- and neutrophil-derived cytokines such as interleukin-1β (
McKella Sylvester, Aran Son, Daniella M. Schwartz   +2 more
doaj   +1 more source

TNF receptor signalling in autoinflammatory diseases [PDF]

, 2019
Autoinflammatory syndromes are a group of disorders characterised by recurring episodes of inflammation as a result of specific defects in the innate immune system.
Lara-Reyna, Samuel; id_orcid, McDermott, MF, Holbrook, Jonathan, McDermott, Michael F, Jarosz-Griffiths, HH, Holbrook, J, Lara-Reyna, S, Jarosz-Griffiths, Heledd H   +7 more
core   +1 more source

PEPITEM Regulates the Synovial Microenvironment During Immune‐Mediated Inflammatory Arthritis to Limit Disease

Arthritis &Rheumatology, EarlyView.
Objective Here we investigate the status of the adiponectin–PEPITEM pathway in early, treatment naive rheumatoid arthritis (RA) and psoriatic arthritis (PsA) and the therapeutic efficacy of PEPITEM administration in preclinical models. Methods Peripheral blood was isolated from patients with clinical suspect arthralgia and suspected inflammatory ...
Mussarat Wahid, Samuel Kemble, Oladimeji Abudu, Anella Saviano, Christopher Mahony, Jonathan W. Lewis, Thomas A. Nicholson, Anna Schettino, Noemi Marigliano, Kathryn Frost, Jenefa Begum, Alyssa M. Urbanowski, Marion Limo, Rakesh Jha, Sandra Martinez Jarquin, Laleh Pezhman, Abbie E. A. Degan, Amy E. Anderson, Charlotte G. Smith, Armaiti Batki, Holly Adams, Francesco Caso, Raffaele Scarpa, Iain McInnes, Stefan Siebert, Arthur G. Pratt, Andrew Filer, Karim Raza, Adam P. Croft, Myriam Chimen, Felicity de Cogan, G. Ed Rainger, Asif J. Iqbal, Francesco Maione, Helen M. McGettrick   +34 more
wiley   +1 more source