title: Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.
abstract: Interferon gamma receptor deficiency is a rare autosomal recessive inherited disorder, with poor prognosis due to early-onset, recurrent, and disseminated mycobacterial infections. Hematopoietic stem cell transplantation (HSCT), the only curative treatment, is particularly difficult in these patients owing to a high rate of graft rejection. We report the first successful hematopoietic stem cell transplantation with an unrelated donor, performed in a schoolgirl with severe interferon gamma receptor 1deficiency caused by a novel mutation.
authors.affiliation: Pediatric Research Center, University Hospital, Tampere University, Tampere, Finland.
authors.forename: Petra
authors.initials: P
authors.lastname: Moilanen
authors.forename: Matti
authors.initials: M
authors.lastname: Korppi
authors.forename: Liisa
authors.initials: L
authors.lastname: Hovi
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Xiao-Fei
authors.initials: XF
authors.lastname: Kong
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Mikko
authors.initials: M
authors.lastname: Arola
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Ulla M
authors.initials: UM
authors.lastname: Saarinen-Pihkala
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis; D015269:Mycobacterium avium Complex / Q000302:isolation & purification; D015270:Mycobacterium avium-intracellulare Infection / Q000175:diagnosis* / Q000628:therapy*; D017471:Receptors, Interferon / Q000172:deficiency*; D016896:Treatment Outcome; D000096743:Interferon gamma Receptor
chemical_list: D000900:Anti-Bacterial Agents; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor