Successful Treatment of PAPA Syndrome with Dual Adalimumab and Tacrolimus Therapy
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Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant disorder with variable expressivity  and results from mutations in the PSTPIP1 gene. The PSTPIP1 protein is a cytoskeletal protein within hematopoietic cells that serves as a scaffold for the binding of other cellular proteins, such as pyrin, protein tyrosine phosphatases, c-Abl, CD2, and WASP. Through these interactions, PSTPIP1 regulates several cellular functions including IL-lβ release, cytoskeleton organization, cell migration, and T cell activation [2, 3]. Depending on the mutation location within the PSTPIP1 gene and consequent alterations in protein-protein interactions, a spectrum of autoinflammatory disorders may result and are collectively referred to as PSTPIP1-associated inflammatory diseases (PAID). While the underlying pathogenesis is not completely understood, the PAID spectrum is characterized by dysregulated IL-lβ release and neutrophil responses , and...
KeywordsPyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome PSTPIP1-associated inflammatory diseases (PAID) autoinflammatory diseases adalimumab tacrolimus
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The authors declare that they have no conflict of interest.
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