title: Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency.
authors.affiliation: Department of Gastrenterology, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Rosa
authors.initials: R
authors.lastname: Coelho
authors.affiliation: Department of Gastrenterology, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Armando
authors.initials: A
authors.lastname: Peixoto
authors.affiliation: Department of Pediatrics, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Amil-Dias
authors.affiliation: Department of Pediatrics, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Eunice
authors.initials: E
authors.lastname: Trindade
authors.affiliation: Department of Pediatric Surgery, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Miguel
authors.initials: M
authors.lastname: Campos
authors.affiliation: Department of Dermatology, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Sofia
authors.initials: S
authors.lastname: Magina
authors.affiliation: Laboratory of Intestinal Immunity, Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.|GENIS group (GENetically ImmUne mediated enteropathieS) from ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition), Petersfield, UK.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Charbit-Henrion
authors.affiliation: Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Lenoir
authors.affiliation: Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Latour
authors.affiliation: Department of Gastrenterology, Centro Hospitalar São João, Porto, Portugal. fm@med.up.pt.|Department of Pharmacology and Therapeutics, Porto Medical School, Porto, Portugal. fm@med.up.pt.
authors.forename: Fernando
authors.initials: F
authors.lastname: Magro
authors.affiliation: Department of Gastrenterology, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Macedo
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense / Q000235:genetics; D003424:Crohn Disease / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D000069285:Infliximab / Q000627:therapeutic use; D008297:Male; D012611:Scrotum / Q000473:pathology; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D000069285:Infliximab