Autor: Mengmeng Wang
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A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by PSTPIP1 gene variants and belongs to the PSTPIP1-associated inflammatory diseases (PAIDs). Its core clinical m…