Abstract
Pyogenic sterile Arthritis Pyoderma gangrenosum and Acne (PAPA) syndrome is a rare autosomal dominant inherited autoinflammatory disease caused by mutations in Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1). In childhood, the syndrome is featured by recurrent sterile, erosive arthritis, potentially leading to joint destruction. By puberty, cutaneous symptoms become predominant, with recurrent onset of pathergy, abscesses, severe cystic acne, and pyoderma gangrenosum. Typically, both articular and cutaneous outcomes occur following a minor trauma. PSTPIP1 may interact with NLRP3 and caspase-1 but a clear involvement of IL-1β is still controversial. While anti-IL1 treatment seems to be effective on joint manifestations, IL inhibition does not display the same effectiveness in the management of skin lesions.
Highlights
Pyogenic sterile Arthritis Pyoderma gangrenosum and Acne (PAPA) syndrome is a rare autosomal dominant inherited autoinflammatory disease caused by mutations in Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)
To investigate in our PAPA cohort whether 1) PSTPIP1 mutated monocytes display enhanced IL1b secretion; 2) different PSTPIP1 mutations and/or clinical manifestations and disease activity correlate with degree in IL1b pathway activation; 3) IL1b release is mediated by NLRP3
Monocytes isolated from PAPA patients tend to secrete higher levels of IL1b but variability occur even in the presence of the same PSTPIP1 variant
Summary
Pyogenic sterile Arthritis Pyoderma gangrenosum and Acne (PAPA) syndrome is a rare autosomal dominant inherited autoinflammatory disease caused by mutations in Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1). The syndrome is featured by recurrent sterile, erosive arthritis, potentially leading to joint destruction. Cutaneous symptoms become predominant, with recurrent onset of pathergy, abscesses, severe cystic acne, and pyoderma gangrenosum. Both articular and cutaneous outcomes occur following a minor trauma. PSTPIP1 may interact with NLRP3 and caspase-1 but a clear involvement of IL-1b is still controversial. While anti-IL1 treatment seems to be effective on joint manifestations, IL inhibition does not display the same effectiveness in the management of skin lesions
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