title: Long-term disease course in a patient with severe neonatal IPEX syndrome.
abstract: We report here on the clinical, histological and immunological findings regarding a patient with immunodysregulation polyendocrinopathy enteropathy X-linked syndrome who was treated for the first 21 years with a combination of immunosuppressant agents (IS). The potential modalities of care and treatment options in this rare and severe immune-mediated disorder are discussed. So, long-term outcome for IPEX patients can be obtained with immunosuppressive treatment, which is important since the outcome of haematopoietic stem cell transplantation for this population is variable.
authors.affiliation: Department of Paediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Lyon, Bron, France; Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, 69003 Lyon, France; CIRI-Centre International de Recherche en Infectiologie, Inserm-U1111, CNRS UMR5308, Team "Mucosal, Immunity, Vaccination & Biotherapy", France. Electronic address: remi.duclauxloras@gmail.com.
authors.forename: Rémi
authors.initials: R
authors.lastname: Duclaux-Loras
authors.affiliation: Department of Pathology, Children's Hospital, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, Lyon, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Collardeau-Frachon
authors.affiliation: CIRI-Centre International de Recherche en Infectiologie, Inserm-U1111, CNRS UMR5308, Team "Mucosal, Immunity, Vaccination & Biotherapy", France; Department of Gastroenterology Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, Université Claude-Bernard Lyon 1, Lyon, France.
authors.forename: Stephane
authors.initials: S
authors.lastname: Nancey
authors.affiliation: Department of Gastroenterology Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, Université Claude-Bernard Lyon 1, Lyon, France; Department of Autoimmunity, Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Fabien
authors.affiliation: Department of Gastroenterology Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, Université Claude-Bernard Lyon 1, Lyon, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Kaiserlian
authors.affiliation: Department of Paediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Lyon, Bron, France; Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, 69003 Lyon, France; CIRI-Centre International de Recherche en Infectiologie, Inserm-U1111, CNRS UMR5308, Team "Mucosal, Immunity, Vaccination & Biotherapy", France.
authors.forename: Alain
authors.initials: A
authors.lastname: Lachaux
mesh_terms: D016572:Cyclosporine / Q000627:therapeutic use; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000188:drug therapy; D003967:Diarrhea / Q000188:drug therapy*; D004359:Drug Therapy, Combination; D016099:Endoscopy, Gastrointestinal; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy*; D005919:Glomerular Filtration Rate; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007154:Immune System Diseases / Q000151:congenital* / Q000188:drug therapy; D007073:Immunoglobulin E / Q000097:blood; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D011239:Prednisolone / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D005938:Glucocorticoids; D007166:Immunosuppressive Agents; D007073:Immunoglobulin E; D016572:Cyclosporine; D011239:Prednisolone; D009173:Mycophenolic Acid