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Article

Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Rheumatology (Oxford, England) - 1 Sept 2023

Özkılınç Önen Merve, Onat Umut I, Uğurlu Serdal, Timuçin Ahmet C, Öz Arslan Devrim, Everest Elif, Özdoğan Huri, Tahir Turanlı Eda

Abstract excerpt

OBJECTIVE: The presence of FMF cases without MEFV (MEFV innate immunity regulator, pyrin) pathogenic variants led us to search for other genes' involvement in the disease development. Here, we describe the presence of genetic heterogeneity in a three-generation family with an FMF/mevalonate kinase deficiency (MKD)-overlapping phenotype without MEFV/MVK (mevalonate kinase) pathogenic variants. METHOD: Targeted...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36692132
DOI: 10.1093/rheumatology/kead044

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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