Autoinflammation due to homozygous S208 MEFV mutation. [PDF]
Ann Rheum Dis, 2019 Heterozygous mutations in the MEFV gene disrupting the Serine-242 residue in the 14-3-3 binding motif of pyrin cause Pyrin-AssociatedAutoinflammation with Neutrophilic Dermatosis (PAAND).1–5 We now describe familial autoinflammation associated with ...
Hong Y +8 more
europepmc +6 more sources
Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? [PDF]
International Journal of Inflammation, 2018 Objectives. Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16.
Leila Shahbaznejad +7 more
doaj +3 more sources
A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes [PDF]
JCI Insight, 2023 Pyrin, a protein encoded by the MEFV gene, plays a vital role in innate immunity by sensing modifications in Rho GTPase and assembling the pyrin inflammasome, which in turn activates downstream immune responses.
Qintao Wang +6 more
doaj +3 more sources
Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events [PDF]
Case Reports in Hematology, 2017 Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks.
Onyemaechi N. Okolo +4 more
doaj +3 more sources
MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever [PDF]
Turk J Med Sci, 2021 Background/aim Familial Mediterranean fever (FMF) is a genetically recessive autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene.
Çakır N +4 more
europepmc +2 more sources
A HYPOTHETICAL ROLE FOR PLAGUE IN THE SELECTION OF MEFV MUTATION CARRIERS IN THE MEDITERRANEAN AREA
Central Asian Journal of Medical Hypotheses and Ethics, 2020 Familial Mediterranean fever (FMF) is the most common autoinflammatory disease associated with mutations in the MEFV gene encoding Pyrin. MEFV mutations are frequent in the Mediterranean region.
Ezgi Deniz Batu
doaj +2 more sources
Gastroenterology Research and Practice, 2021 Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD ...
S. Sahin, D. Gulec, S. Günay, C. Cekic
doaj +2 more sources
An association between MEFV mutation and ANCA-associated vasculitis involving the central nervous system and lungs: causality under scrutiny [PDF]
European Journal of Case Reports in Internal MedicineFamilial Mediterranean fever (FMF) is traditionally associated with biallelic mutations in the MEFV gene; however, heterozygous mutations may also contribute to disease phenotypes.
Marcus Villander Barros de Oliveira Sá +4 more
doaj +2 more sources
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis. [PDF]
Orphanet J Rare Dis, 2015 BackgroundA study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1–2 day long self-limited
Shinar Y +15 more
europepmc +2 more sources
Could MEFV mutation carriage status have a protective role for COVID-19 pandemic? [PDF]
Med Hypotheses, 2020 Kavukçu S, Soylu A.
europepmc +2 more sources