Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita
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免疫失调、多内分泌病、肠病、与新生儿大疱性表皮松解症相关的 X 连锁综合征
DOI：
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发表时间：
2015
影响因子：
1.5
通讯作者：
Daniel D. Miller
中科院分区：
文献类型：
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作者：
Sabina Bis;S. Maguiness;S. Gellis;L. Schneider;Pui Y. Lee;L. Notarangelo;S. Keleş;T. Chatila;B. Schmidt;Daniel D. Miller
我们报告一例2周大的男孩，在自身免疫性肠病、甲状腺功能减退、膜性肾病、Coombs阳性溶血性贫血和持续性嗜酸性粒细胞增多的情况下出现水泡性脓疱性大疱性皮疹。免疫学检查显示FOXP3表达调节性T细胞缺乏，并诊断为免疫失调、多内分泌病、肠病、X连锁综合征。组织学分析、免疫荧光和酶联免疫吸附试验证实了大疱性皮疹为获得性大疱性表皮炎，伴有相关的VII型胶原自身抗体产生。皮肤病变对全身免疫抑制剂治疗有反应，并在异基因骨髓移植后消退。
We report the case of a 2‐week‐old boy who presented with a vesiculopustular, bullous eruption in the setting of autoimmune enteropathy, hypothyroidism, membranous nephropathy, Coombs‐positive hemolytic anemia, and persistent eosinophilia. Immunologic testing revealed a deficiency of FOXP3‐expressing regulatory T cells, and a diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome was made. Histologic analysis, immunofluorescence, and enzyme‐linked immunosorbent assay confirmed the bullous eruption as epidermolysis bullosa acquisita with associated collagen VII autoantibody production. The skin lesions responded to systemic immunosuppressant therapy and have regressed after allogeneic bone marrow transplantation.
影响因子：
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作者：
Nieves, DS;Phipps, RP;Goldsmith, LA
通讯作者：
Goldsmith, LA