Results 21 to 30 of about 2,294 (167)
Mevalonate kinase deficiency syndrome: Single center experience
Научно-практическая ревматология, 2021 The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova +23 more
doaj +1 more source
Post-Acute Sequelae Patients with Severe COVID-19 History Show a Prolonged Inflammatory, Vascular Injury Pattern. [PDF]
Eur J ImmunolLong‐COVID or post‐acute sequelae of COVID‐19 syndrome (PASC) patients with previous severe COVID‐19 ICU history prior vaccination display sustained significant changes in their immune profile at both the cellular and the inflammatory level, revealing signatures of persistent inflammation and endothelial injury.
Ruhl L +13 more
europepmc +2 more sources
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. [PDF]
Mol Genet Metab, 2013 OBJECTIVE: To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF). METHODS: EFAs were determined in sera derived from an archival, cross-sectional group of HIDS/FMF patients, stratified for presence ...
Simon A +5 more
europepmc +2 more sources
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
Frontiers in Immunology, 2021 Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
doaj +1 more source
Inflammasomes and dermatology [PDF]
Anais Brasileiros de Dermatologia, 2016 : Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
doaj +1 more source
Frontiers in Immunology, 2021 Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations.
Hana Malcova +8 more
doaj +1 more source
The many faces of pediatric urticaria
Frontiers in Allergy, 2023 Urticaria is a common disease that can affect individuals of all age groups, with approximately one-quarter of the population experiencing it at least once in their lifetime.
Bulent Enis Sekerel +4 more
doaj +1 more source
Hyper-IgD syndrome and pregnancy : case report [PDF]
, 1996 Contains fulltext : 24048___.PDF (Publisher’s version ) (Open Access)
Hullu, J.A. de +3 more
openaire +2 more sources
Frontiers in Immunology, 2022 BackgroundThe cytokine interleukin (IL)-1 plays a pivotal role in immune-mediated disorders, particularly in autoinflammatory diseases. Targeting this cytokine proved to be efficacious in treating numerous IL-1-mediated pathologies. Currently, three IL-1
Dennis D. Arnold +3 more
doaj +1 more source
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience
Frontiers in Immunology, 2021 Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation.Objective: To describe spectrum of clinical ...
Deepti Suri +26 more
doaj +1 more source