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Article

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

Pediatric rheumatology online journal - 1 Jan 2015

De Pieri Carlo, Vuch Josef, De Martino Eleonora, Bianco Anna M, Ronfani Luca, Athanasakis Emmanouil, Bortot Barbara, Crovella Sergio, Taddio Andrea, Severini Giovanni M, Tommasini Alberto

Abstract excerpt

BACKGROUND: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. METHODS: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients...

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Share to Cryopyrin-Associated Periodic Syndromes
Share to Familial Mediterranean Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Autoinflammatory Diseases

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Receptors, Tumor Necrosis Factor, Type I

Source

Open in PubMed Open full text

Identifiers

PMID: 25866490
DOI: 10.1186/s12969-015-0006-z
PMCID: PMC4393620

Genes

MEFV
MVK
NLRP12
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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