Proceedings of the 26th European Paediatric Rheumatology Congress: part 1
Journal: Pediatric Rheumatology
Year: 2020

Introduction: PSTPIP1-associated inflammatory syndrome (PAID) results from mutations in the PSTPIP1 gene and is characterized by a range of clinical phenotypes and variable expressivity. Most mutations of PSTPIP1 lead to pyogenic phenotype. Yet, mutation c.748G>A(p.E250K) often leads to hematological symptoms associated with a variable degree of autoinflammation. Complex pathogenesis of PAID and its diverse clinical features lead to diagnostic and therapeutic challenges. Objectives: To analyze c