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Blood, 1 September 2004, Vol. 104, No. 5, pp. 1270-1272.
Prepublished online as a Blood First Edition Paper on May 13, 2004; DOI 10.1182/blood-2004-03-0846.
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Submitted March 11, 2004
Accepted April 23, 2004
Multiple revertant patients in a single Wiskott-Aldrich syndrome family
Taizo Wada, Shepherd H Schurman, G J Jagadeesh, Elizabeth K Garabedian, David L Nelson, and Fabio Candotti*
Genetics and Molecular Biology Branch and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
* Corresponding author; email: fabio{at}nhgri.nih.gov.
We previously reported on a 43-year-old Wiskott-Aldrich syndrome (WAS) patient with progressive clinical improvement and revertant T cell mosaicism. Deletion of the disease-causing 6-bp insertion was hypothesized to have occurred by DNA polymerase slippage. We now describe two additional patients from the same family who also presented with revertant T lymphocytes that showed selective in vivo advantage. In one patient, somatic mosaicism was demonstrated on leukocytes cryopreserved at the age of 22, eleven years before his death from kidney failure. The second patient is now 16, presents with a moderate clinical phenotype and developed revertant cells after the age of 14. These results support DNA polymerase slippage as a common underlying mechanism and indicate that T cell mosaicism may have different clinical effects in WAS.
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