1.
Pediatr Transplant
; 10(3): 395-9, 2006 May.
Article
in English
| MEDLINE
| ID: mdl-16677369
ABSTRACT
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by thrombocytopenia, eczema, impaired cellular and humoral immunity, and increased susceptibility to malignancy and autoimmunity. The only curative treatment for WAS is hematopoietic stem cell transplantation, especially in the presence of a matched sibling donor or matched unrelated donor. Here, we report the case of a 2.5-yr-old boy with WAS that resulted in mixed chimerism after having received bone marrow from his phenotypically identical grandfather. Although the patient has persistent thrombocytopenia (platelet counts 50-80 x 10(9)/L), he is currently alive and doing well at 36 months post-transplant and is free of any bleeding episodes.
Subject(s)
Hematopoietic Stem Cell Transplantation/methods , Wiskott-Aldrich Syndrome/genetics , Wiskott-Aldrich Syndrome/therapy , Alleles , Child, Preschool , Chimerism , Hematopoietic Stem Cell Transplantation/adverse effects , Humans , Male , Thrombocytopenia/etiology , Time Factors , Transplantation Conditioning
2.
J Genet
; 83(2): 197-9, 2004 Aug.
Article
in English
| MEDLINE
| ID: mdl-15536260
Subject(s)
Polymorphism, Genetic , Tandem Repeat Sequences , Alleles , DNA/genetics , Gene Frequency , Humans , Turkey
3.
J Forensic Sci
; 48(1): 218, 2003 Jan.
Article
in English
| MEDLINE
| ID: mdl-12570237