Results 61 to 70 of about 6,236 (217)

Prediction of More Severe MEFV Gene Mutations in Childhood

Turkish Archives of Pediatrics, 2021
This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings.We enrolled cases diagnosed with FMF with a defined variation in at least one allele.
Güneş-Yılmaz, Seviye, Kasap-Demir, Belde, Soyaltın, Eren, Erfidan, Gökçen, Özdemir-Şimşek, Özgür, Arslansoyu-Çamlar, Seçil, Alaygut, Demet, Mutlubaş, Fatma   +7 more
openaire   +3 more sources

The Frequency of MEFV Gene Mutations for Familial Mediterranean Fever

, 2019
Objective: Familial mediterranean fever is anautosomal recessive genetic disease caused by mutations in the MEFV genes. Itwas aimed to determine the types and frequency of MEFV mutations in Familialmediterrenean fever cases due to the fact that there is ...
Yaralı, Oğuzhan, Kenan ÇADIRCI, Bayrak, Muharrem, Oğuzhan YARALI, Muharrem BAYRAK, Çadırcı, Kenan   +5 more
core   +1 more source

Familial Mediterranean fever in Armenian children with inflammatory bowel disease

Frontiers in Pediatrics
Inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) are inflammatory diseases with complex interactions among genetic, immune, and environmental factors.
Gayane Amaryan, Gayane Amaryan, Tamara Sarkisian, Tamara Sarkisian, Artashes Tadevosyan, Christian Braegger   +5 more
doaj   +1 more source

Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey)

Nucleosides, Nucleotides & Nucleic Acids
The main objective of this study is to detect the variants in patients who were diagnosed with familial Mediterranean fever (FMF) according to Tel-Hashomer diagnostic criteria and investigated the relationship between genotype-phenotype and the gene expression levels of the Mediterranean fever (MEFV) gene.
Eda, Ganiyusufoglu, Hasan, Daglı, Metin, Kılınc   +2 more
openaire   +2 more sources

Limited association of MEFV gene variants with disease severity and clinical phenotypes in children with MIS-C

Egyptian Pediatric Association Gazette
Background Multisystem inflammatory syndrome in children (MIS-C) is a post-infectious hyperinflammatory condition that develops after SARS-CoV-2 infection and may involve multiple organ systems, including the cardiovascular, hematologic, neurologic, and ...
Hala Lotfy, Heba Atef, Fatma Abd El Wahab, Sarah Ragab, Hend Abu Shady   +4 more
doaj   +1 more source

The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever

Indian Journal of Rheumatology, 2019
Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever.
Eser Dogan, Semra Gursoy, Giray Bozkaya, Secil Arslansoyu Camlar, Ozge Aksel Kilicarslan, Alper Soylu, Ayfer Ulgenalp, Salih Kavukcu, Ozlem Giray Bozkaya   +8 more
doaj   +1 more source

Schnitzler Syndrome as an Autoinflammatory Disease Driven by B‐Cell‐Specific Somatic MYD88 Mutation

Allergy, EarlyView.
Yuyi Zhou, Yoko Ueki, Naoya Iwata, Hiroshi Oue, Kentaro Kato, Mengyan Li, Kazushi Izawa, Tomoyasu Jo, Seishi Ogawa, Kenji Kabashima, Naotomo Kambe   +10 more
wiley   +1 more source

Single‐Cell Profiling of Splenic Immune Ageing and Chronic Stress Adaptations in Mice With Natural Microbiota

European Journal of Immunology, Volume 56, Issue 3, March 2026.
Mice with natural microbiota show expected ageing spleen trends: naïve T cell loss with effector‐memory expansion, mature B cell shifts, Gzmk+ CD8+ T cell heterogeneity, diminished NK cytotoxicity and pro‐inflammatory macrophages. Chronic stress modestly counteracted these age‐related changes.
Chinna Susan Philip, Igor Filippov, Uku Haljasorg, Pärt Peterson   +3 more
wiley   +1 more source

Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever [PDF]

, 2019
FMF is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still largely classified as acvariant of uncertain significance, or with unresolved classification, posing significant challenges in FMF diagnosis. Rare
D'Uggento, Angela Maria, Portincasa, Piero, Accetturo, Matteo, Stella, Alessandro   +3 more
core   +1 more source

New Diseases Linked to MEFV Variants or Pyrinopathies

The Journal of Allergy and Clinical Immunology: In Practice
Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response. Since the
Mertz, Philippe, Boursier, Guilaine, Hentgen, Véronique, Georgin-Lavialle, Sophie   +3 more
openaire   +3 more sources