Hematopoietic stem cell transplantation from a donor with Klinefelter syndrome for Wiskott-Aldrich syndrome.
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.
Balci
Yasemin Isik
YI
Pediatric Hematology-Bone Marrow Transplantation Unit, Faculty of Medicine, Ihsan Dogramaci Childrens Hospital, Turkey. dryibalci@gmail.com
Turul
Tuba
T
Daar
Ghaniya
G
Anak
Sema
S
Devecioglu
Omer
O
Tezcan
Ilhan
I
Cetinkaya
Duygu Uckan
DU
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*