Results 61 to 70 of about 181,043 (245)

Autoinflammatory Disorders

, 2012
Originally, autoinflammatory diseases were defined as conditions characterized by seemingly unprovoked episodes of inflammation, without high titres of autoantibodies or antigen-specific T-cells [1].
Berg, Stefan,, Stefan Berg, Wekell, Per,, Per Wekell, Anders Fasth, Fasth, Anders,   +5 more
core   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 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

Autoinflammatory diseases and the kidney

Immunologic Research, 2023
AbstractThe kidney represents an important target of systemic inflammation. Its involvement in monogenic and multifactorial autoinflammatory diseases (AIDs) vary from peculiar and relatively frequent manifestations to some rare but severe features that may end up requiring transplantation.
Mohamed Tharwat Hegazy, Ahmed Fayed, Rossana Nuzzolese, Jurgen Sota, Gaafar Ragab   +4 more
openaire   +4 more sources

Interleukin-1: Ariadne's Thread in Autoinflammatory and Autoimmune Disorders [PDF]

, 2015
Autoinflammatory and autoimmune disorders are characterized by chronic activation of the immune system, which leads to systemic self-directed inflammation in genetically predisposed individuals.
Vitale, Antonio, CANTARINI, LUCA, Lopalco, Giuseppe, GALEAZZI, MAURO, Rigante, Donato, Cattalini, Marco   +5 more
core   +2 more sources

Construction and evaluation of a chronic arthritis animal model induced by persistent activation of toll‐like receptors via lipopolysaccharide stimulation

Animal Models and Experimental Medicine, EarlyView.
We constructed a novel systemic juvenile idiopathic arthritis mouse model (LC) by introducing sustained TLR4 activation into the collagen‐induced arthritis model. The LC model effectively recapitulates human sJIA‐like systemic inflammation while revealing a critical dissociation between systemic immune activation and joint damage.
Fengming Li, Qiang Luo, Xinglin Wu, Yuxiao Chen, Xuemei Tang   +4 more
wiley   +1 more source

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

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 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

Eating disorders, autoimmune, and autoinflammatory disease [PDF]

, 2017
OBJECTIVES: Identifying factors associated with risk for eating disorders is important for clarifying etiology and for enhancing early detection of eating disorders in primary care.
Mortensen, P.B., Thornton, L.M., Bulik, C.M., Quaranta, M, Stephanie Zerwas, Koch, SV, Petersen, Liselotte, Thornton, Laura M., Mortensen, PB, Bulik, CM, Quaranta, Michela, Janne Tidselbak Larsen, Zerwas, S, Larsen, Janne Tidselbak, Larsen, JT, Zerwas, Stephanie, Laura M. Thornton, Bulik, Cynthia M., Susanne Vinkel Koch, Quaranta, M., Pisetsky, D., Larsen, J.T., David Pisetsky, Cynthia M. Bulik, Pisetsky, D, Preben Bo Mortensen, Pisetsky, David, Mortensen, Preben Bo, Thornton, LM, Michela Quaranta, Petersen, L., Liselotte Petersen, Petersen, L, Koch, Susanne Vinkel, Koch, S.V., Zerwas, S.   +35 more
core   +1 more source