Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita
| Autor: | Luigi D. Notarangelo, Talal A. Chatila, Birgitta A. Schmidt, Stephen E. Gellis, Sheilagh M. Maguiness, Lynda C. Schneider, Pui Y. Lee, Daniel D. Miller, Sabina Bis, Sevgi Keles |
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| Rok vydání: | 2015 |
| Předmět: |
Diarrhea
Male Epidermolysis bullosa acquisita Hemolytic anemia Fluorescent Antibody Technique Enzyme-Linked Immunosorbent Assay Dermatology Epidermolysis Bullosa Acquisita Autoimmune enteropathy medicine.disease_cause Immunofluorescence Diagnosis Differential Membranous nephropathy medicine Humans Eosinophilia Enteropathy Bone Marrow Transplantation integumentary system medicine.diagnostic_test business.industry Infant Newborn Genetic Diseases X-Linked Immune dysregulation medicine.disease Diabetes Mellitus Type 1 Immune System Diseases Pediatrics Perinatology and Child Health Immunology medicine.symptom business Immunosuppressive Agents |
| Zdroj: | Pediatric Dermatology. 32:e74-e77 |
| ISSN: | 0736-8046 |
| DOI: | 10.1111/pde.12550 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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