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蛋白酶体相关的婴儿自身炎症综合征 2 例

Proteasome-associated autoinflammatory syndrome 2 in a neonate.

机构信息

Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China.

Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.

出版信息

Pediatr Dermatol. 2024 Jan-Feb;41(1):166-168. doi: 10.1111/pde.15495. Epub 2023 Dec 18.

DOI:10.1111/pde.15495
PMID: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 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.

摘要

蛋白酶体相关自身炎症综合征 2 型（PRAAS2）的特征为早发性联合免疫缺陷、炎症性中性粒细胞皮肤病和自身免疫。我们报告了一例胎龄 35 周的早产儿，其出生时患有弥漫性融合性红色丘疹，被诊断为 PRAAS2。检测到一种新的从头产生的蛋白酶体成熟蛋白（POMP）突变（c.333delT（p.t111fs）），从而确诊。

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