Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita

Sabina Bis, Sheilagh M. Maguiness, Stephen E. Gellis, Lynda C. Schneider, Pui Y. Lee, Luigi D. Notarangelo, Sevgi Keles, Talal A. Chatila, Birgitta A. Schmidt, Daniel D. Miller

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)e74-e77
JournalPediatric Dermatology
Volume32
Issue number3
DOIs
StatePublished - May 1 2015

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Epidermolysis Bullosa Acquisita
Membranous Glomerulonephritis
Hemolytic Anemia
Homologous Transplantation
Eosinophilia
Regulatory T-Lymphocytes
Immunosuppressive Agents
Bone Marrow Transplantation
Autoantibodies
Fluorescent Antibody Technique
Collagen
Enzyme-Linked Immunosorbent Assay
Skin
Therapeutics
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Autoimmune enteropathy
Autoimmune Hypothyroidism

Cite this

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita. / Bis, Sabina; Maguiness, Sheilagh M.; Gellis, Stephen E.; Schneider, Lynda C.; Lee, Pui Y.; Notarangelo, Luigi D.; Keles, Sevgi; Chatila, Talal A.; Schmidt, Birgitta A.; Miller, Daniel D.

In: Pediatric Dermatology, Vol. 32, No. 3, 01.05.2015, p. e74-e77.

Research output: Contribution to journalArticle

Bis, Sabina ; Maguiness, Sheilagh M. ; Gellis, Stephen E. ; Schneider, Lynda C. ; Lee, Pui Y. ; Notarangelo, Luigi D. ; Keles, Sevgi ; Chatila, Talal A. ; Schmidt, Birgitta A. ; Miller, Daniel D. / Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita. In: Pediatric Dermatology. 2015 ; Vol. 32, No. 3. pp. e74-e77.
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AU - Lee, Pui Y.

AU - Notarangelo, Luigi D.

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