title: [Successful treatment of a patient with Wiskott-Aldrich syndrome using hematopoietic stem cell transplantation--case report and literature review].
abstract: OBJECTIVE
  Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency diseases. The patients with classical WAS have poor prognosis. The hematopoietic stem cell transplantation is the most effective method to cure WAS at present. In this report, a patient with WAS was cured with HLA identical sibling bone marrow transplantation (BMT).
  
  
  METHODS
  Wiskott-Aldrich syndrome protein (WASP) was detected using flow cytometry and WASP were analyzed for the diagnosis. The bone marrow was collected from the elder sister who was the HLA identical sibling donor. A total of 4.38x10(8)/kg mononuclear cell (MNC) and 3.78x10(6)/kg CD34+ cells were collected and transfused into the patient after the conditioning regimen with busulfan/cyclophosphamide. Cyclosporine only was used for graft-versus-host disease prophylaxis. WASP and short tandem repeats (STR) were detected as the evidence of engraftment.
  
  
  RESULTS
  The diagnosis was WAS: WASP (-IVS9+2T>C, WASP-negative). The patient received busulfan/cyclophosphamide 9 days before the transplantation. WBC decreased to 0.1x10(9)/L in d+4; The absolute number of neutrophils (ANC) was 0.8x10(9)/L in d+13, and exceeded 1.0x10(9)/L later on. From d(-9)-d+14 the patient was dependent on platelet transfusion. From d+15 the patient's PLT>50x10(9)/L and returned to normal after d+30. In d+9-d+10 mild GVHD (I degree) occurred but subsided after the steroid treatment. From d+50, WASP was detected positive and STR showed full donor DNA chimera. Follow-up for 510 d post-transplant, the patient suffered only from mild cold twice, no eczema, no bleeding occurred. The PLT is normal and no chronic GVHD occurred. The levels of IgG, IgM and IgA of the patient were approximately normal.
  
  
  CONCLUSIONS
  The HLA-identical sibling's BMT seems to be the periorit treatment of choice for the WAS patient.
authors: Department of Hematology/Oncology, Children's Hospital, Chongqing Medical University, Chongqing 400014, China.
authors: Jie
authors: J
authors: Yu
authors: Xian-min
authors: XM
authors: Guan
authors: Bi-tao
authors: BT
authors: Dai
authors: Li-ping
authors: LP
authors: Jiang
authors: Yong-chun
authors: YC
authors: Su
authors: Jian-wen
authors: JW
authors: Xiao
authors: Xiao-mei
authors: XM
authors: Liu
authors: Ying
authors: Y
authors: Xian
authors: You-hua
authors: YH
authors: Xu
authors: Xi-qiang
authors: XQ
authors: Yang
authors: Xiao-dong
authors: XD
authors: Zhao
mesh_terms: D002675:Child, Preschool; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D014923:Wiskott-Aldrich Syndrome / Q000601:surgery*