X 连锁免疫调节紊乱、多内分泌腺病、肠病综合征表现为淋巴细胞性间质性肺炎和治疗抵抗性大疱性类天疱疮。
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Manifesting as Lymphocytic Interstitial Pneumonia and Treatment-Resistant Bullous Pemphigoid.
机构信息
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Department of Pediatrics and Adolescents Medicine, Aarhus University Hospital, Aarhus, Denmark.
出版信息
Pediatr Allergy Immunol Pulmonol. 2021 Jun;34(2):76-79. doi: 10.1089/ped.2020.1307.
Abstract
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare immune deficiency with a broad clinical presentation. IPEX syndrome causes dysfunctional regulatory T cells, increasing the risk of autoimmune diseases. In this case report, we describe a 7-year-old boy with lymphocytic interstitial pneumonia and bullous pemphigoid who was recently diagnosed with IPEX syndrome.
摘要
免疫调节紊乱、多内分泌腺病、肠病、X 连锁（IPEX）综合征是一种罕见的免疫缺陷病，临床表现广泛。IPEX 综合征导致调节性 T 细胞功能失调，增加自身免疫性疾病的风险。在本病例报告中，我们描述了一名 7 岁男孩，患有淋巴细胞性间质性肺炎和大疱性类天疱疮，最近被诊断为 IPEX 综合征。
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