title: The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.
abstract: BACKGROUND
  Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT).
  
  
  METHODS
  We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly. After several immunological, genetic and clinical investigations, subsequently a therapeutic attempt with colectomy, analysis of VEO-IBD-associated genes, revealed a causative mutation in XIAP. The genetic diagnosis of a primary immune deficiency allowed curing the boy with hematopoietic stem cell transplantation.
  
  
  CONCLUSIONS
  Our report, together with novel findings from recent literature, should contribute to increase awareness of monogenic immune defects as a cause of VEO-IBD. Comprehensive genetic analysis can allow a prompt diagnosis, resulting in the choice of effective treatments and sparing useless and damaging procedures.
authors.affiliation: Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. martina.girardelli@burlo.trieste.it.
authors.forename: Martina
authors.initials: M
authors.lastname: Girardelli
authors.affiliation: Gastroenterology and Endoscopy Unit, G. Gaslini Children's Hospital-IRCCS, Genoa, Italy. serenaarrigo@ospedale-gaslini.ge.it.
authors.forename: Serena
authors.initials: S
authors.lastname: Arrigo
authors.affiliation: Gastroenterology and Endoscopy Unit, G. Gaslini Children's Hospital-IRCCS, Genoa, Italy. arrigobarabino@ospedale-gaslini.ge.it.
authors.forename: Arrigo
authors.initials: A
authors.lastname: Barabino
authors.affiliation: Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy. claudia.loganes@gmail.com.
authors.forename: Claudia
authors.initials: C
authors.lastname: Loganes
authors.affiliation: Hematopoietic Stem Cell Transplantation Unit, Haematology-Oncology Department, G. Gaslini Children's Research Institute, Genoa, Italy. giuseppemorreale@ospedale-gaslini.ge.it.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Morreale
authors.affiliation: Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. sergio.crovella@burlo.trieste.it.|Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy. sergio.crovella@burlo.trieste.it.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.affiliation: Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. alberto.tommasini@burlo.trieste.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
authors.affiliation: Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. annamonicarosaria.bianco@burlo.trieste.it.
authors.forename: Anna Monica
authors.initials: AM
authors.lastname: Bianco
mesh_terms: D017668:Age of Onset; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000209:etiology* / Q000628:therapy; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics
chemical_list: D051636:X-Linked Inhibitor of Apoptosis Protein