title: Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation.
abstract: Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system, which results in a syndrome of macrophage hyperactivation, known as hemophagocytic lymophohistiocytosis (HLH). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for genetically induced HLH. Few cases of successful HSCT from a compatible donor have been reported in children with GS. We describe the first patient with GS cured with an allograft from a compatible unrelated bone marrow donor. We used a novel preparative regimen consisting of busulfan, thiotepa and fludarabine. The demonstrated curative effect of HSCT from an unrelated donor in a patient with genetically determined HLH also supports the use of a systematic diagnostic approach in these patients, in order to identify those with a worse prognosis and needing an urgent allograft in a timely manner.
authors.affiliation: Onco Ematologia Pediatrica, Ospedale dei Bambini 'G Di Cristina', Palermo, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Aricò
authors.forename: M
authors.initials: M
authors.lastname: Zecca
authors.forename: N
authors.initials: N
authors.lastname: Santoro
authors.forename: D
authors.initials: D
authors.lastname: Caselli
authors.forename: R
authors.initials: R
authors.lastname: Maccario
authors.forename: C
authors.initials: C
authors.lastname: Danesino
authors.forename: G
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: F
authors.initials: F
authors.lastname: Locatelli
mesh_terms: D016026:Bone Marrow Transplantation; D003937:Diagnosis, Differential; D018572:Disease-Free Survival; D006085:Graft Survival; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D017496:Hypopigmentation; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000628:therapy*; D007223:Infant; D008297:Male; D013577:Syndrome; D014019:Tissue Donors; D014184:Transplantation, Homologous; D020691:rab GTP-Binding Proteins / Q000235:genetics
chemical_list: D020691:rab GTP-Binding Proteins