A Chromosomal Duplication Encompassing Interleukin-33 Causes a Novel Hyper IgE Phenotype Characterized by Eosinophilic Esophagitis and Generalized Autoimmunity

Affiliations

• ¹ Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.
• ² Departments of Pediatrics and Medicine, University of Toronto, Toronto, Ontario, Canada; Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ³ Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
• ⁴ Division of Gastroenterology, Hepatology and Nutrition, SickKids Inflammatory Bowel Disease Centre and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada.
• ⁵ Karl Landsteiner University of Health Sciences, Krems, Austria; Translational Medicine Program, Research Institute, The Hospital for Sick Children and Department of Immunology, University of Toronto, Toronto, Ontario, Canada; Department of Pediatric and Adolescent Medicine, University Hospital St Pölten, St Pölten, Austria. Electronic address: thomas.eiwegger@stpoelten.lknoe.at.
• ⁶ Division of Dermatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ⁷ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
• ⁸ Department of Pediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ⁹ SickKids Inflammatory Bowel Disease Centre and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada.
• ¹⁰ Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ¹¹ Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ¹² Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ¹³ Translational Medicine Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Immunology, University of Toronto, Toronto, Ontario, Canada.
• ¹⁴ Department of Paediatrics, North York General Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Genetics, Department of Medicine, North York General Hospital, University of Toronto, Toronto, Ontario, Canada.
• ¹⁵ Department of Immunology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ¹⁶ Department of Pathology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ¹⁷ SickKids Inflammatory Bowel Disease Centre and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.