Eur J Gastroenterol Hepatol 2021 May 21. Epub 2021 May 21.
Unit of Digestive Endoscopy and Surgery Unit of Immune and Infectious Diseases, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Scientific Institute for Research and Healthcare Department of Systems Medicine, University of Rome Tor Vergata Department of Pathology and Molecular Histopathology Unit of General and Thoracic Surgery, Department of Pediatric Surgery Department of Pediatric Onco-Hematology, Cell and Gene Therapy, Bambino Gesù Children's Hospital - Scientific Institute for Research and Healthcare, Rome Unit of Pediatric Gastroenterology and Cystic Fibrosis Unit, Department of Human Pathology in Adulthood and Childhood 'G. Barresi,' University of Messina, Messina Unit of Pediatric Oncology and Hematology, Department of Pediatrics, Vittorio Emanuele University Hospital, University of Catania, Catania Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Scientific Institute for Research and Healthcare, Rome, Italy.
Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. Read More