Affiliation:
1. Department of Pediatrics, West China Second Hospital Sichuan University Chengdu China
2. Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education Chengdu Sichuan China
Abstract
AbstractProteasome‐associated autoinflammatory syndrome‐2 (PRAAS2) is characterized by early onset combined immunodeficiency, inflammatory neutrophilic dermatosis, and autoimmunity. We report the case of a premature baby (GA 35+5 weeks) born with disseminated and confluent red papules, diagnosed with PRAAS2. A novel de novo frameshift proteasome maturation protein (POMP) mutation (c.333delT (p.t111fs)) was detected, confirming the diagnosis.
Subject
Dermatology,Pediatrics, Perinatology and Child Health