title: Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey.
abstract: OBJECTIVE
  To evaluate the outcome of hematopoietic stem cell transplantation (HSCT) in a series of patients with inherited complete IFN-gamma receptor 1 (IFNgammaR1) deficiency.
  
  
  METHODS
  We report 8 patients who received altogether 11 HSCT from family donors, including 10 HLA-identical (5 siblings and 5 relatives) and 1 HLA-haplo-identical donors. Five grafts were T-cell depleted, and conditioning regimens varied in intensity.
  
  
  RESULTS
  Four patients died within 8 months after HSCT. Two of these deaths were due to specific complications related to mycobacterial infection. There was no or very low (2%) donor cell engraftment in 2 survivors. Only 2 patients are in full remission of mycobacterial disease 5 years after HSCT. These are the only patients who received non-T-cell-depleted grafts from an HLA-identical sibling after a fully myeloablative conditioning regimen.
  
  
  CONCLUSIONS
  HSCT can lead to prolonged remission of mycobacterial disease in children with complete IFNgammaR1 deficiency. However, optimal control of mycobacterial infection before HSCT and the use of a non-T-cell-depleted transplant from an HLA-identical sibling after a fully myeloablative conditioning regimen are recommended.
authors.affiliation: Department of Pediatrics and the Department of Internal Medicine, University Clinic Carl Gustav Carus, Dresden, Germany. roeslerj@rcs.urz.tu-dresden.de
authors.forename: Joachim
authors.initials: J
authors.lastname: Roesler
authors.forename: Mitchell E
authors.initials: ME
authors.lastname: Horwitz
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Pierre
authors.initials: P
authors.lastname: Bordigoni
authors.forename: Graham
authors.initials: G
authors.lastname: Davies
authors.forename: Ewa
authors.initials: E
authors.lastname: Koscielniak
authors.forename: Mike
authors.initials: M
authors.lastname: Levin
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
authors.forename: Ursula
authors.initials: U
authors.lastname: Reuter
authors.forename: Ansgar
authors.initials: A
authors.lastname: Schulz
authors.forename: Christian
authors.initials: C
authors.lastname: Thiede
authors.forename: Thomas
authors.initials: T
authors.lastname: Klingebiel
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006086:Graft vs Host Disease; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D015337:Multicenter Studies as Topic; D009154:Mutation; D009164:Mycobacterium Infections / Q000150:complications* / Q000235:genetics / Q000401:mortality; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D019172:Transplantation Conditioning / Q000379:methods*; D016896:Treatment Outcome; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor