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Updated: Jul 8, 2025

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Proteasome-associated autoinflammatory syndrome 2 in a neonate
Feihong Zhang1,2, Na Ma1,2, Li Zhang1,2
1Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China.
Abstract:
Proteasome-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.
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