PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1)

This case emphasizes the importance of prompt identification of PAPASH syndrome in patients presenting with overlapping inflammatory conditions and highlights the need for clinical vigilance, timely initiation of biologic agents, and coordinated care to improve outcomes in this rare but serious disorder.

Finally, this study identified genetic susceptibility linked to 253 PC-related CpG sites. This study provides insights into the disease's origins and underscores potential targets for future research.

Overexpression of PSTPIP1 was closely associated with patient survival, with high PSTPIP1 expression serving as a prognostic factor for reduced overall survival in ccRCC patients. Our findings indicate that high expression of PSTPIP1 is a predictor of poor prognosis in ccRCC patients, suggesting this protein may represent a potential therapeutic target for ccRCC treatment.

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.

Acting as a classic steroid-sparing immunosuppressive agent, methotrexate had also been part of the patient's treatment regimen...After thorough assessment of the patient's medical history and current condition, a multi-agent regimen was initiated, consisting of adalimumab, isotretinoin, and prednisone...In addition, TNF-α inhibitors, such as adalimumab, etanercept, and infliximab, have been generally regarded as a more effective treatment option for cutaneous changes, while anakinra, an anti-IL-1 agent, has been more beneficial in alleviating joint symptoms (9-11)...Furthermore, the available therapeutic options are not sufficient to achieve long-term remission in many patients. Thus, continuous and comprehensive research is vital for ensuring adequate care of patients with PAPA syndrome.

Compared to PD-L1-negative LUAD tissues, the protein levels of PSTPIP1 and PILRA were relatively increased in the PD-L1-positive tissues, and the expression of PSTPIP1 and PILRA positively correlated with the tumor-infiltrating lymphocytes. We identified PSTPIP1 and PILRA as prognostic biomarkers relevant to immune infiltration in LUAD, and both are associated with the response to anti-PD-L1 treatment.