Autoinflammatory & rare systemic diseases
Detection of a rare variant inPSTPIP1through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype
Authors' conclusion
Unlike previously described cases with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA)-associated PSTPIP1 variants, our patients with the p.Arg228Cys variant presented with an FMF/MKD-overlapping phenotype.
Study context
- Population
- Three-generation family with an FMF/MKD-overlapping phenotype without MEFV/MVK pathogenic variantsthree-generation family
- Comparison
- Patients harboring PSTPIP1 p.Arg228Cys vs healthy controls
- Outcome
- PSTPIP1 p.Arg228Cys variant: penetrance, PSTPIP1 stability, PSTPIP1-pyrin interaction and mature caspase-1 and IL1ß levels
Methodological detailsfamily study (three generations), targeted sequencing, computational stability analyses, immunoprecipitation and immunoblotting in peripheral blood mononuclear cells (PBMCs)
- Family study (three generations)
- Targeted sequencing
- Computational stability analyses
- Immunoprecipitation and immunoblotting in PBMCs
Main finding
As reported in the abstract
Complete penetrance of the rare PSTPIP1 p.Arg228Cys variant in the family, autosomal dominant pattern (GnomAD frequency)
0.000028
Original publication
Detection of a rare variant inPSTPIP1through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype. Rheumatology (Oxford). Published 24 January 2023. doi:10.
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