The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006.
The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease caused by mutations in the Wiskott-Aldrich Protein (WASP) gene, which typically leads to absent WASP protein expression in WAS leukocytes. However, some patients have been found with small populations of WASP-expressing cells caused by reverse or second-site mutations that allow protein expression. An international consortium was established to further investigate these phenomena. This paper summarizes data collected by this consortium that was presented at a workshop held during the XIIth Meeting of the European Society for Immunodeficiencies (ESID), October, 2006. WASP reversions were noted in approximately 11% of 272 patients tested. Many different cell lineages showed reversions. These data form the foundation for further investigation into this phenomenon, which has implications for therapy of this disease.
Stewart
Donn M
DM
Immunophysiology Section, Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. dstew@helix.nih.gov
Candotti
Fabio
F
Nelson
David L
DL
D000293:Adolescent; D000328:Adult; D019070:Cell Lineage / Q000235:genetics / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005060:Europe; D006801:Humans; D007223:Infant; D009030:Mosaicism; D009154:Mutation; D012955:Societies, Medical; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics / Q000502:physiology
D051316:Wiskott-Aldrich Syndrome Protein
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