当前位置： SCI文献检索 > ANNALS OF THE RHEUMATIC DISEASES期刊下所有文献 > Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Abstract：

BACKGROUND AND OBJECTIVE:Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the MEFV gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association for most of the 340 reported MEFV variants. In this study, the authors designed a functional assay and evaluated its potential in supporting FMF diagnosis. METHODS:Peripheral blood mononuclear cells (PBMCs) were obtained from patients with Pyrin-associated autoinflammation with an FMF phenotype (n=43) or with autoinflammatory features not compatible with FMF (n=8), 10 asymptomatic carriers and 48 healthy donors. Sera were obtained from patients with distinct AIDs (n=10), and whole blood from a subset of patients and controls. The clinical, demographic, molecular genetic factors and other characteristics of the patient population were assessed for their impact on the diagnostic test read-out. Interleukin (IL)-1β and IL-18 levels were measured by Luminex assay. RESULTS:The ex vivo colchicine assay may be performed on whole blood or PBMC. The functional assay robustly segregated patients with FMF from healthy controls and patients with related clinical disorders. The diagnostic test distinguished patients with classical FMF mutations (M694V, M694I, M680I, R761H) from patients with other MEFV mutations and variants (K695R, P369S, R202Q, E148Q) that are considered benign or of uncertain clinical significance. CONCLUSION:The ex vivo colchicine assay may support diagnosis of FMF and functional subtyping of Pyrin-associated autoinflammation.

journal_name

Ann Rheum Dis

journal_title

Annals of the rheumatic diseases

authors

Van Gorp H,Huang L,Saavedra P,Vuylsteke M,Asaoka T,Prencipe G,Insalaco A,Ogunjimi B,Jeyaratnam J,Cataldo I,Jacques P,Vermaelen K,Dullaers M,Joos R,Sabato V,Stella A,Frenkel J,De Benedetti F,Dehoorne J,Haerynck F,C

doi

10.1136/annrheumdis-2019-216701

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

960-968

issue

eissn

0003-4967

issn

1468-2060

pii

annrheumdis-2019-216701

journal_volume

pub_type

杂志文章

在线工具

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.