Results 101 to 110 of about 8,365 (219)

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive ...
Maria Zerkaoui   +4 more
doaj   +1 more source

DAPSONE AS AN ALTERNATIVE THERAPY IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER [PDF]

open access: yes
Objective: Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease.
جهانگیری, سپیده   +2 more
core  

New Diseases Linked to MEFV Variants or Pyrinopathies

open access: yesThe 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   +3 more
openaire   +3 more sources

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study

open access: yesThe Turkish Journal of Pediatrics
Background. The aim of this study was to investigate whether a short exon screening consisting of selected variants could confirm the diagnosis in patients with a preliminary diagnosis of familial Mediterranean fever (FMF), thus providing a cost-saving ...
Betül Sözeri   +3 more
doaj   +1 more source

Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

open access: yesCase Reports in Rheumatology, 2019
Background and Objective. CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones.
Farhad Salehzadeh   +2 more
doaj   +1 more source

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]

open access: yes, 2015
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N.   +6 more
core   +3 more sources

Multiple Myeloma in a Patient With Familial Mediterranean Fever [PDF]

open access: yes, 2017
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. The coexistence of multiple myeloma (MM) and FMF is an extremely rare event.
Bashardoust, Bahman, Maleki, Nasrollah
core  

Autoinflammatory diseases: a possible cause of thrombosis? [PDF]

open access: yes, 2015
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Francesco Orlandini   +2 more
core   +2 more sources

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

open access: yesMedicine 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

MEFV gen mutation analysis in patient with idiopatic uveitis [PDF]

open access: yes
Introduction : FMF is an autosomal recessive disease that have high prevalence in the Mediterranean region. Common Clinical findings in FMF included abdominal pain, fever, arthritis, myalgia and pleuritis.
صالح زاده, فرهاد   +2 more
core   +1 more source

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