The expanding phenotypic spectrum of PSTPIP1-associated inflammatory diseases: first Korean pediatric cases of familial PAPA and PAMI syndromes

This is the authors' abstract. We don't add key points for this paper.

PSTPIP1 (proline-serine-threonine phosphatase-interacting protein 1)-associated inflammatory diseases (PAID) encompass a spectrum of rare monogenic autoinflammatory disorders, most notably PAPA (pyogenic arthritis, pyoderma gangrenosum, and acne) syndrome and PAMI (PSTPIP1-associated myeloid-related proteinemia inflammatory) syndrome.1) Both arise from PSTPIP1 variants that dysregulate pyrin-mediated inflammasome activation, yet the specific variant may influence the resulting pheno-type, ranging from isolated sterile arthritis to severe systemic inflammation.Because of their rarity and phenotypic heterogeneity, these conditions are frequently misdiagnosed, often leading to substantial diagnostic delay.We report 2 Korean children with genetically confirmed PAID and markedly different phenotypes.