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Article

Proteasome-associated autoinflammatory syndrome 2 in a neonate.

Pediatric dermatology - 1 Jan 2000

Zhang Feihong, Ma Na, Zhang Li, Xia Bin, Yang Rong, Hu Yong

Abstract excerpt

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,...

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Identifiers

PMID: 38111302
DOI: 10.1111/pde.15495

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