title: Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.
abstract: In this retrospective collaborative study, we have analyzed long-term outcome and donor cell engraftment in 194 patients with Wiskott-Aldrich syndrome (WAS) who have been treated by hematopoietic cell transplantation (HCT) in the period 1980- 2009. Overall survival was 84.0% and was even higher (89.1% 5-year survival) for those who received HCT since the year 2000, reflecting recent improvement of outcome after transplantation from mismatched family donors and for patients who received HCT from an unrelated donor at older than 5 years. Patients who went to transplantation in better clinical conditions had a lower rate of post-HCT complications. Retrospective analysis of lineage-specific donor cell engraftment showed that stable full donor chimerism was attained by 72.3% of the patients who survived for at least 1 year after HCT. Mixed chimerism was associated with an increased risk of incomplete reconstitution of lymphocyte count and post-HCT autoimmunity, and myeloid donor cell chimerism < 50% was associated with persistent thrombocytopenia. These observations indicate continuous improvement of outcome after HCT for WAS and may have important implications for the development of novel protocols aiming to obtain full correction of the disease and reduce post-HCT complications.
authors.affiliation: A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disorders of Childhood, Spedali Civili, Brescia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Moratto
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Carmem
authors.initials: C
authors.lastname: Bonfim
authors.forename: Evelina
authors.initials: E
authors.lastname: Mazzolari
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cant
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Thrasher
authors.forename: Morton J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: Michael H
authors.initials: MH
authors.lastname: Albert
authors.forename: Trudy
authors.initials: T
authors.lastname: Small
authors.forename: Sung-Yun
authors.initials: SY
authors.lastname: Pai
authors.forename: Elie
authors.initials: E
authors.lastname: Haddad
authors.forename: Antonella
authors.initials: A
authors.lastname: Lisa
authors.forename: Sophie
authors.initials: S
authors.lastname: Hambleton
authors.forename: Mary
authors.initials: M
authors.lastname: Slatter
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Troy R
authors.initials: TR
authors.lastname: Torgerson
authors.forename: Lauri
authors.initials: L
authors.lastname: Burroughs
authors.forename: Adriana
authors.initials: A
authors.lastname: Koliski
authors.forename: Jose Zanis
authors.initials: JZ
authors.lastname: Neto
authors.forename: Fulvio
authors.initials: F
authors.lastname: Porta
authors.forename: Waseem
authors.initials: W
authors.lastname: Qasim
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
authors.forename: Kristina
authors.initials: K
authors.lastname: Kavanau
authors.forename: Manfred
authors.initials: M
authors.lastname: Hönig
authors.forename: Ansgar
authors.initials: A
authors.lastname: Schulz
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D015551:Autoimmunity / Q000276:immunology; D001782:Blood Donors; D019070:Cell Lineage; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D009154:Mutation; D017063:Outcome Assessment, Health Care / Q000706:statistics & numerical data; D011183:Postoperative Complications / Q000097:blood / Q000209:etiology / Q000276:immunology; D012189:Retrospective Studies; D016019:Survival Analysis; D013921:Thrombocytopenia / Q000097:blood / Q000209:etiology; D013997:Time Factors; D018183:Transplantation Chimera / Q000097:blood*; D014923:Wiskott-Aldrich Syndrome / Q000097:blood / Q000235:genetics / Q000601:surgery*