title: Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
abstract: BACKGROUND
  Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis.
  
  
  OBJECTIVE
  We sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT).
  
  
  METHODS
  We enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled.
  
  
  RESULTS
  Of 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life.
  
  
  CONCLUSIONS
  Because the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.
authors.affiliation: Department of Immunology, University College London Medical School (Royal Free Campus), London, United Kingdom.
authors.forename: Karin R
authors.initials: KR
authors.lastname: Engelhardt
authors.forename: Neil
authors.initials: N
authors.lastname: Shah
authors.forename: Intan
authors.initials: I
authors.lastname: Faizura-Yeop
authors.forename: Dilara F
authors.initials: DF
authors.lastname: Kocacik Uygun
authors.forename: Natalie
authors.initials: N
authors.lastname: Frede
authors.forename: Aleixo M
authors.initials: AM
authors.lastname: Muise
authors.forename: Eyal
authors.initials: E
authors.lastname: Shteyer
authors.forename: Serkan
authors.initials: S
authors.lastname: Filiz
authors.forename: Ronnie
authors.initials: R
authors.lastname: Chee
authors.forename: Mamoun
authors.initials: M
authors.lastname: Elawad
authors.forename: Britta
authors.initials: B
authors.lastname: Hartmann
authors.forename: Peter D
authors.initials: PD
authors.lastname: Arkwright
authors.forename: Christopher
authors.initials: C
authors.lastname: Dvorak
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.forename: Erik-Oliver
authors.initials: EO
authors.lastname: Glocker
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D003092:Colitis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D007223:Infant; D007231:Infant, Newborn; D016753:Interleukin-10 / Q000172:deficiency*; D008297:Male; D009154:Mutation; D053701:Receptors, Interleukin-10 / Q000172:deficiency*
chemical_list: D053701:Receptors, Interleukin-10; D016753:Interleukin-10