[HTML][HTML] Hints for genetic and clinical differentiation of adult-onset monogenic autoinflammatory diseases

C Gaggiano, D Rigante, A Vitale… - Mediators of …, 2019 - ncbi.nlm.nih.gov
Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity
characterized by systemic inflammation recurring with variable frequency and involving the …

Familial Mediterranean fever: clinical state of the art

BH Egeli, S Ugurlu - QJM: An International Journal of Medicine, 2022 - academic.oup.com
As the inflammation research improves year-by-year, so does our understanding of the
autoinflammatory conditions. Over the past years, the number of monogenic …

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

ME Yildirim, HK Kurtulgan, O Ozdemir… - Annals of Saudi …, 2019 - annsaudimed.net
ABSTRACT BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive,
autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused …

Different pharmaceutical preparations of colchicine for Familial Mediterranean Fever: are they the same?

H Emmungil, U İlgen, S Turan, S Yaman… - Rheumatology …, 2020 - Springer
This study aimed to investigate the benefit of changing the pharmaceutical preparation of
colchicine in Turkish Familial Mediterranean Fever (FMF) patients resistant to one …

Cardiac tamponade: a rare manifestation of familial Mediterranean fever

A Malek, T Zeraati, A Sadr-Nabavi… - Case Reports in …, 2022 - Wiley Online Library
Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and
serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect …

Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV

K Miyashita, Y Matsuda, M Okajima… - Pediatrics …, 2022 - Wiley Online Library
Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disease
caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical …

The Effect of Clinical and Genetic Variables of Familial Mediterranean Fever Patients: Real Life Data

N Öner, E Çelikel, V Güngörer, ZE Tekin… - JCR: Journal of …, 2023 - journals.lww.com
Background The Eurofever/the Pediatric Rheumatology International Trials Organization
(PRINTO) classification criteria for familial Mediterranean fever (FMF) include a combination …

Anxiety and depression among patients with familial Mediterranean fever

OC Kilinc, A Kilinc, FN Azman, S Ardac, B Egeli… - Zeitschrift für …, 2024 - Springer
Abstract Background Familial Mediterranean fever (FMF) is a systemic autoinflammatory
disease that requires lifelong treatment and is associated with several comorbidities …

MEFV gene sequencing for unresolved molecular diagnosis in Egyptian familial Mediterranean fever patients; role of R202Q variant

R El Hawary, M El-Baioumy, S Meshaal, S Elanwary… - Gene Reports, 2022 - Elsevier
Abstract Background Familial Mediterranean fever (FMF) diagnosis depends mainly on
clinical criteria. The genetic diagnosis is important especially in patients without typical …

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

L Alsubaie, R Alkhalaf, T Aloraini… - Annals of Human …, 2020 - Wiley Online Library
Abstract Background Familial Mediterranean fever is a hereditary inflammatory disorder
caused by variants in MEFV. c. 2230G> T p.(Ala744Ser) rs61732874 is considered to be an …