Autoinflammatory & rare systemic diseases
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne
Authors' conclusion
PAPA-associated PSTPIP1 mutations trigger a pyrin-IL-18-IFN-γ positive feedback loop that drives PAPA disease activity and is a target for JAK inhibition.
Study context
- Population
- PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne) caused by dominant PSTPIP1 mutation; five treatment-refractory PAPA patients5 treatment-refractory patients treated
- Outcome
- Molecular pathogenesis of PAPA: inflammasome activation by PAPA-associated PSTPIP1 mutations, IFN-γ/IL-18 pathway and response to Janus kinase (JAK) inhibition
Methodological detailsknock-in mouse model, human myeloid cell line model, ex vivo PBMC studies, case series of JAKi treatment
- Knock-in mouse model
- Human myeloid cell line model
- Ex vivo PBMC studies
- Case series of JAKi treatment
Main finding
As reported in the abstract
Addition of JAKi therapy to IL-1 inhibition associated with clinical improvement in treatment-refractory PAPA patients
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Original publication
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne. Ann Rheum Dis. Published 15 May 2024. doi:10.
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