Cases reported "Wiskott-Aldrich Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/7. Accidental busulfan overdose: enhanced drug clearance with hemodialysis in a child with wiskott-aldrich syndrome.

    A 4.6 kg infant with wiskott-aldrich syndrome received an accidental overdose of busulfan during preparation for allogeneic stem cell transplantation. Pharmacokinetic analysis of plasma busulfan levels alerted staff to the dosing error. Hemodialysis was immediately performed and resulted in accelerated clearance of busulfan. There were no acute neurologic and hepatic side-effects of the busulfan overdose, and despite 2 months of cough accompanied by rales, the patient is now free of pulmonary symptoms. Stable partial donor chimerism occurred after transplantation. At present, the patient is thriving and infection-free 12 months after transplantation, although his platelet count remains at the lower limit of normal.
- - - - - - - - - -
ranking = 1
keywords = chimerism
(Clic here for more details about this article)

2/7. The usefulness of X-linked polymorphic loci as gene markers to track X allele and chimerism in a post-allogeneic peripheral blood stem cell transplant patient with wiskott-aldrich syndrome.

    wiskott-aldrich syndrome (WAS), an X-linked recessive disorder, is characterized by progressive T-cell immunodeficiency. Laboratory findings generally demonstrate reduced response to T-cell mitogens, markedly decreased serum concentration of IgM, and thrombocytopenia with small platelet volume. Allogeneic HLA-matched sibling bone marrow transplantation (BMT) can correct this disorder. We report the usefulness of X-linked polymorphic loci to detect X-allele gene tracking among WAS siblings and chimerism between a pre- and post-allogeneic matched sibling peripheral blood stem cell transplantation (PBSCT). A 3 1/2 year old boy with clinical and laboratory findings consistent with WAS underwent allogeneic matched sibling PBSCT. We used BclI restriction fragment length polymorphism (RFLP) of intron 18 of factor vii gene and MseI RFLP of the 5' flanking region of factor ix gene to detect X-allele gene tracking among siblings and family members and chimerism in patients between pre-and post-allogeneic matched sibling PBSCT. We were able to demonstrate that determination of BclI and MseI RFLP can be employed to recognize the difference in X-allele genes between the recipient and donor for allogeneic matched sibling PBSCT. The authors also were able to demonstrate that these polymorphic loci can detect full chimerism of donor hematopoietic cells in recipient blood after allogeneic PBSCT. This finding was correlated with improvement of post-PBSCT clinical and laboratory findings. BclI and MseI RFLP associated with X-chromosome can effectively track X-allele, detect carrier state, and demonstrate the different X-allele among male siblings, and chimerism of hematopoietic cells between donors and recipients in a setting of allogeneic matched sibling BMT or PBSCT for X-linked hereditary diseases such as wiskott-aldrich syndrome.
- - - - - - - - - -
ranking = 8
keywords = chimerism
(Clic here for more details about this article)

3/7. Autoimmune thyroiditis after bone marrow transplantation in a boy with wiskott-aldrich syndrome.

    We report a boy with wiskott-aldrich syndrome (WAS) who developed autoimmune thyroiditis 19 months after allogenic bone marrow transplantation (BMT). Possible causes of his autoimmune illness were 1) transference of autoimmune cells from the donor, which was ruled out because of the absence of autoimmune illness in his healthy HLA-identical brother (donor); 2) persistent mixed chimerism after BMT ruled out by post-BMT molecular analysis of the proband's peripheral lymphocytes; and 3) patient's predisposition to autoimmune disease secondary to an dysregulated immune system because of WAS and his HLA haplotype. This case brings previously unreported findings to the spectrum of WAS.
- - - - - - - - - -
ranking = 1
keywords = chimerism
(Clic here for more details about this article)

4/7. Successful unmanipulated haploidentical bone marrow transplantation from an HLA 2-locus-mismatched mother for wiskott-aldrich syndrome after unrelated cord blood stem cell transplantation.

    The authors describe a boy with wiskott-aldrich syndrome (WAS) who was diagnosed immediately after birth using flow cytometric and genetic analysis. At 1 year of age he received unrelated cord blood stem cell transplantation (UCBSCT); however, the sex chromosomes of the peripheral blood mononuclear cells showed that the recipient type was over 70%. This rate gradually increased to over 90% after immunosuppressant therapy was discontinued. Clinical manifestations, including high fever, graft-versus-host disease (GVHD)-like eruptions, and signs of infection recurred. Results of flow cytometric and genetic analysis of mononuclear cells from the boy's mother were normal with no mutation. Three months after UCBSCT, he received an unmanipulated HLA-haploidentical 2-locus-mismatched bone marrow transplant (BMT) from his mother. The prophylaxis against GVHD was tacrolimus and short-term methotrexate. Hematopoietic reconstitution was rapid and fluorescence in situ hybridization analysis revealed sustained engraftment. Grade II acute GVHD developed but improved rapidly with the administration of methylprednisolone. The patient is progressing well and displays complete chimerism 2 years after the BMT. This case suggests that unmanipulated haploidentical BMT from the mother might be feasible not only for malignant disease but also for immunodeficiency disease patients who urgently need stem cell transplants and have no HLA-identical donors.
- - - - - - - - - -
ranking = 1
keywords = chimerism
(Clic here for more details about this article)

5/7. Stable mixed chimerism after hematopoietic stem cell transplantation in wiskott-aldrich syndrome.

    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.
- - - - - - - - - -
ranking = 5
keywords = chimerism
(Clic here for more details about this article)

6/7. bone marrow transplantation in the wiskott-aldrich syndrome. Complete hematological and immunological reconstitution.

    A 21-month-old boy with the wiskott-aldrich syndrome conditioned with cyclophosphamide and dimethyl myleran received bone marrow from an HLA-matched sibling. Complete hematological chimerism was achieved. During the first 3 months after transplantation, in vitro B cell function, measured by a direct plaque assay, was abnormal, T cell helper activity impaired, and suppressor T cell function was excessive. These abnormalities resolved gradually over 16 months. Antibody responses to the T-dependent antigen, bacteriophage phi X174, were initially low, then became normal; antibody responses to keyhole limpet hemocyanin (KLH) and to 4 of 12 type-specific pneumococcal polysaccharide antigens were adequate when studied 9 months after transplantation. The clinical response was excellent: the patient has been free of infection, no longer has a bleeding tendency, and has shown normal growth and development.
- - - - - - - - - -
ranking = 1
keywords = chimerism
(Clic here for more details about this article)

7/7. Successful bone marrow transplantation in a Chinese boy with wiskott-aldrich syndrome.

    We describe the successful use of HLA-compatible sibling bone marrow transplantation (BMT) in a 17-month-old Chinese boy in whom wiskott-aldrich syndrome (WAS) was diagnosed on the basis of eczema, thrombocytopenia, recurrent otitis media and abnormal immunological tests. The conditioning chemotherapy included 2 days' oral busulfan, 40 mg/m2/6 hours, and 2 days' intravenous cyclophosphamide, 60 mg/kg/day (BU2CY2). Complete hematological chimerism was achieved 3 weeks after transplantation. Eight months after his BMT the eczema has resolved, platelet count is normal, and he no longer has frequent infections. BU2CY2 as a preconditioning regimen gave complete lymphohematopoietic engraftment in this WAS patient with no evidence of graft-versus-host disease. The excellent clinical response of this patient and the inevitable fatal outcome of WAS support the opinion that where a histocompatible donor is available, BMT at the earliest opportunity is the best option. We believe this is the first case of successful BMT in a Chinese patient with WAS.
- - - - - - - - - -
ranking = 1
keywords = chimerism
(Clic here for more details about this article)


Leave a message about 'Wiskott-Aldrich Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.