title: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita.
abstract: 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.
authors: Harvard Combined Dermatology Program, Boston, Massachusetts.
authors: Sabina
authors: S
authors: Bis
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Sheilagh M
authors: SM
authors: Maguiness
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Stephen E
authors: SE
authors: Gellis
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Lynda C
authors: LC
authors: Schneider
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Pui Y
authors: PY
authors: Lee
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Luigi D
authors: LD
authors: Notarangelo
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Sevgi
authors: S
authors: Keles
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Talal A
authors: TA
authors: Chatila
authors: Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors: Birgitta A
authors: BA
authors: Schmidt
authors: Department of Dermatology, School of Medicine, Boston University, Boston, Massachusetts.
authors: Daniel D
authors: DD
authors: Miller
mesh_terms: D016026:Bone Marrow Transplantation; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital / Q000175:diagnosis / Q000628:therapy; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000175:diagnosis* / Q000628:therapy; D004797:Enzyme-Linked Immunosorbent Assay; D016107:Epidermolysis Bullosa Acquisita / Q000175:diagnosis* / Q000628:therapy; D005455:Fluorescent Antibody Technique; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007154:Immune System Diseases / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male
chemical_list: D007166:Immunosuppressive Agents