title: Hematopoietic stem cell transplantation from a donor with Klinefelter syndrome for Wiskott-Aldrich syndrome.
abstract: WAS is a rare X-linked recessive disorder characterized by primary progressive T cell immunodeficiency, impaired antipolysaccharide antibody response, thrombocytopenia with small platelet, and eczematoid dermatitis. Untreated patients with typical WAS have poor prognosis with the major causes of death being infection, bleeding, lymphoproliferative disorders, and malignancy. Due to the increased risk of infectious and hemorrhagic episodes the best results with HSCT are achieved in patients less than five yr of age and are recommended as early as possible. Here, we report a three-yr-old boy with WAS who underwent UCB and BMT from his genotypically identical brother with Klinefelter syndrome.
authors.affiliation: Pediatric Hematology-Bone Marrow Transplantation Unit, Faculty of Medicine, Ihsan Dogramaci Childrens Hospital, Turkey. dryibalci@gmail.com
authors.forename: Yasemin Isik
authors.initials: YI
authors.lastname: Balci
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul
authors.forename: Ghaniya
authors.initials: G
authors.lastname: Daar
authors.forename: Sema
authors.initials: S
authors.lastname: Anak
authors.forename: Omer
authors.initials: O
authors.lastname: Devecioglu
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Duygu Uckan
authors.initials: DU
authors.lastname: Cetinkaya
mesh_terms: D002675:Child, Preschool; D046528:Chimerism; D005260:Female; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D019520:Living Donors; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D018183:Transplantation Chimera / Q000235:genetics / Q000276:immunology; D016896:Treatment Outcome; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000628:therapy*