Results 51 to 60 of about 2,516,978 (116)

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

, 2015
Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis.
Gulsen, Suleyman, Savas, Didem, Uluca, Unal, Coskun, Salih, Cim, Abdullah, Ustyol, Lokman, Bayram, Yasemin, Bektas, M. Selcuk   +7 more
core   +1 more source

The Role of NLRP1, AIM2 and MEFV Inflammasomes in the High‐Intensity Interval Training of Individuals With Obesity

Immunology, Volume 178, Issue 1, Page 109-117, May 2026.
This study shows that 8 weeks of high‐intensity interval training (HIIT) modulate inflammasome‐related gene expression in individuals with obesity. HIIT increased AIM2, MEFV, CARD16 and CARD18 expression, with CARD16 upregulation supporting reduced inflammation through inhibition of caspase‐1 activation and lower IL‐1β levels.
Ana Luíza Pereira Assunção Silveira, Daniela Alves de Abreu, Amanda de Lima Santos Musto, Luiz Henrique da Silva Nali, Jônatas Bussador do Amaral, André Luis Lacerda Bachi, Marina Tiemi Shio, Paula Rezende‐Teixeira, Carolina Nunes França   +8 more
wiley   +1 more source

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, Yosuke Kono, Norio Hasuda, Mai Iwaya, Takaya Nakane, Tomomi Yamaguchi, Tomoki Kosho, Yoshiko Nakayama   +9 more
wiley   +1 more source

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

Allergy, Volume 81, Issue 8, Page 2969-2971, August 2026.
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

Exploring Diagnostic Challenges: A Case Report Commentary on “Solving a Diagnostic Dilemma in a Patient With Periodic Fever—When the Pieces of the Puzzle Finally Fit”

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This case highlights the diagnostic challenge of distinguishing periodic fever syndromes with prominent neurological features from interferonopathies. While the absence of specific features on MRI/MRA and SAVI reduces the likelihood of certain subtypes, genetic evaluation involving interferon pathway genes remains important.
Fatih Kelesoglu, Adem Polat
wiley   +1 more source

Functional stratification of MEFV variants by flow cytometric assessment of pyrin inflammasome activation

Pediatric Allergy and Immunology, Volume 37, Issue 8, August 2026.
Blandine Monjarret, Isabel Fernandez, Marie‐Paule Morin, Roxane Labrosse, Kathryn Samaan, Julie Barsalou, Karine Leveillé, Cloé Martin, Aymeric Fabié, Guilhem Cros, Elie Haddad, Jean‐Jacques De Bruycker, Fabien Touzot   +12 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

PREVALENCE AND SIGNIFICANCE OF MEFV GENE MUTATIONS IN PATIENTS WITH SARCOIDOSIS

, 2015
Objectives: Sarcoidosis is a chronic granulomatous disease. Pyrin has anti-inflammatory activity in the regulation of inflammasomes and is encoded by the Mediterranean fever (MEFV) gene.
Goksel, T., Berdeli, A., Kobak, S., Sever, F., Orman, M., Goksel, O.   +5 more
core   +1 more source

A Narrative Review on Integrative Bioinformatics Approaches for microRNA Research in Familial Mediterranean Fever: Current Insights and Future Directions

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by mutations in the MEFV gene, resulting in recurrent inflammatory episodes and a risk of developing amyloidosis. Although its pathophysiology is well described, FMF still lacks specific biomarkers and personalized treatment strategies ...
Zeinab Skaineh, Razane Hammoud, Ahlam Chaaban, Eliana Eldawra, José‐Noel Ibrahim   +4 more
wiley   +1 more source

Mediterranean Fever Gene Mutations and Messenger Ribonucleic Acid Expressions in Pediatric Patients With Familial Mediterranean Fever in the Trakya Region of Turkey

The Turkish Journal of Gastroenterology, 2014
Objectives: This study aims to investigate the possible relationship between Mediterranean fever (MEFV) gene mutations and messenger ribonucleic acid (mRNA) expressions and to identify the link between phenotype and genotype of pediatric patients with ...
Hilmi TOZKIR, Hakan GÜRKAN, Neşe ÖZKAYIN, Necdet SÜT3   +3 more
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