Results 61 to 70 of about 6,939 (203)

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]

, 2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G, CARUSO, Calogero, Colomba, P, Duro, G., Gallizzi, R, Iemolo, F, Nuzzo, D, VASTO, Sonya, Zizzo, C   +8 more
core  

Autoinflammatory syndromes: diagnosis and management [PDF]

, 2010
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and ...
Sara De Sanctis, Manuela Nozzi, Marianna Del Torto, Alessandra Scardapane, Stefania Gaspari, Giuseppina de Michele, Luciana Breda, Francesco Chiarelli   +7 more
core   +2 more sources

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

Unusual presentation of familial Mediterranean fever with co‐existing polyarteritis nodosa and acute post‐streptococcal glomerulonephritis

Clinical Case Reports, 2022
Acute post‐streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation.
Yeşim Özdemir Atikel, Betül Emine Derinkuyu, Sevcan A. Bakkaloğlu   +2 more
doaj   +1 more source

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Revista Brasileira de Reumatologia
Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF).
Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek   +7 more
doaj   +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

Course of COVID-19 in patients carrying different MEFV mutations of familial Mediterranean fever

Medicine Science
Familial Mediterranean Fever (FMF) is a genetic auto-inflammatory disease. Mutations in the Mediterranean fever (MEFV) gene cause inappropriate immune system triggering, leading to inflammatory episodes in the peritoneum, pleura, and joints.
Bilgehan Demir, Dogu Karahan
doaj   +1 more source

Analysis Of Mefv Gene Alternatively Spliced Transcripts Expression Patterns In Cell Culture Models [PDF]

, 2014
Tez (Yüksek Lisans) -- İstanbul Teknik Üniversitesi, Fen Bilimleri Enstitüsü, 2013Thesis (M.Sc.) -- İstanbul Technical University, Institute of Science and Technology, 2013Ailevi Akdeniz Ateşi (AAA), bölgemizdeki görülme sıklığı 1/200 ila 1/1073 arasında
Abacı, İrem
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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 variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus

Frontiers in Immunology
BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immune tolerance, leading to systemic inflammation and organ damage. The Mediterranean fever (MEFV) gene, primarily linked to familial Mediterranean fever (FMF)
Yushiro Endo, Tomohiro Koga, Lamiaa Mohamed, Yoshika Tsuji, Masataka Umeda, Hiroko Hayashi, Tatsuya Kishino, Atsushi Kawakami   +7 more
doaj   +1 more source