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Proteasome-associated autoinflammatory syndrome 2 in a neonate.
Zhang, Feihong; Ma, Na; Zhang, Li; Xia, Bin; Yang, Rong; Hu, Yong.
Affiliation
  • Zhang F; Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China.
  • Ma N; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
  • Zhang L; Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China.
  • Xia B; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
  • Yang R; Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China.
  • Hu Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Pediatr Dermatol ; 41(1): 166-168, 2024.
Article in En | MEDLINE | ID: mdl-38111302
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex Limits: Humans / Newborn Language: En Journal: Pediatr Dermatol Year: 2024 Document type: Article Affiliation country: China Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex Limits: Humans / Newborn Language: En Journal: Pediatr Dermatol Year: 2024 Document type: Article Affiliation country: China Country of publication: United States