Proteasome-associated autoinflammatory syndrome 2 in a neonate.

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

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

Afiliação

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 em En | MEDLINE | ID: mdl-38111302

ABSTRACT

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.

Assuntos

Complexo de Endopeptidases do Proteassoma; Recém-Nascido; Humanos; Complexo de Endopeptidases do Proteassoma/genética; Complexo de Endopeptidases do Proteassoma/metabolismo; Síndrome; Mutação

Palavras-chave

autoimmune diseases; gene mutation; proteasome; proteasome maturation protein; proteasome-associated autoinflammatory syndrome 2

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo de Endopeptidases do Proteassoma Limite: Humans / Newborn Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China

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