纯红细胞再生障碍性贫血（PRCA）和小脑发育不全作为I型多腺体自身免疫综合征（APS-1）的非典型特征：两名具有相同AIRE突变但表型不同的姐妹。
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes.
作者信息
Chinello Matteo, Mauro Margherita, Cantalupo Gaetano, Balter Rita, De Bortoli Massimiliano, Vitale Virginia, Zaccaron Ada, Bonetti Elisa, Gaudino Rossella, Fiorini Elena, Cesaro Simone
机构信息
Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Mother and Child Department, University of Verona, Verona, Italy.
出版信息
Front Pediatr. 2019 Feb 26;7:51. doi: 10.3389/fped.2019.00051. eCollection 2019.
Abstract
The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis.
摘要
Ⅰ型多腺体自身免疫综合征是一种罕见的常染色体隐性遗传性疾病。我们描述了一名患有该疾病典型三联征的儿童及其患有纯红细胞再生障碍和小脑发育不全的姐姐。后者接受了两次造血干细胞移植，并发急性播散性脑脊髓炎。
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