[Successful treatment of a patient with Wiskott-Aldrich syndrome using hematopoietic stem cell transplantation--case report and literature review].
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.
Yu
Jie
J
Department of Hematology/Oncology, Children's Hospital, Chongqing Medical University, Chongqing 400014, China.
Guan
Xian-min
XM
Dai
Bi-tao
BT
Jiang
Li-ping
LP
Su
Yong-chun
YC
Xiao
Jian-wen
JW
Liu
Xiao-mei
XM
Xian
Ying
Y
Xu
You-hua
YH
Yang
Xi-qiang
XQ
Zhao
Xiao-dong
XD
D002675:Child, Preschool; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D014923:Wiskott-Aldrich Syndrome / Q000601:surgery*