P03-001 - PFAPA and MEFV genes [PDF]
Pediatric Rheumatology, 2013 Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease.
Salehzadeh, F +3 more
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A Case of Henoch-Schonlein Purpura Associated with Rotavirus Infection in an Elderly Asian Male and Review of the Literature. [PDF]
, 2017 BACKGROUND Henoch-Schönlein purpura (HSP), a small vessel vasculitis mediated by deposition of immune-complexes containing IgA in the skin, gut, and glomeruli, often presents with abdominal pain, purpuric rash in the lower extremities and buttocks, joint
Adderley +13 more
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MEFV mutations in systemic onset juvenile idiopathic arthritis [PDF]
Rheumatology, 2008 Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic arthritis (SoJIA). An increased rate of MEFV mutations has been shown among patients with PAN and HSP, in populations where FMF is frequent ...
N A, Ayaz +8 more
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Recurrent synovitis of hip and MEFV gene related arthritis in children
Pediatric Rheumatology Online Journal, 2020 Background Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved.
Farhad Salehzadeh, Mehrdad Mirzarahimi
doaj +1 more source
Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]
, 2008 Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky +7 more
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Case Reports in Pediatrics, 2021 Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality.
Tomonobu Sato +10 more
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Patient with FMF and Triple MEFV Gene Mutations [PDF]
Medical Archives, 2015 Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks,
Salehzadeh, Farhad, Fathi, Afshin
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Current Issues in Molecular Biology, 2023 Epigenetic modifications play a pivotal role in autoimmune/inflammatory disorders and could establish a bridge between personalized medicine and disease epidemiological contexts.
May E. Zekry +5 more
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Elevated systemic antibodies towards commensal gut microbiota in autoinflammatory condition [PDF]
, 2008 Article No.
Aminov, Rustam I +7 more
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A clinical case of Crohn's disease with late-onset familial Mediterranean fever
Alʹmanah Kliničeskoj MedicinyA rare co-occurrence of Crohn’s disease (CD) and familial Mediterranean fever (FMF) is a complex comorbidity with similarities in their immune pathophysiology and clinical manifestations.
Ekaterina G. Ganich +8 more
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