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Case Reports
. 2001 Apr 15;166(8):5245-9.
doi: 10.4049/jimmunol.166.8.5245.

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

T Ariga  1 , T Kondoh, K Yamaguchi, M Yamada, S Sasaki, D L Nelson, H Ikeda, K Kobayashi, H Moriuchi, Y Sakiyama
Affiliations
Case Reports

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

T Ariga et al. J Immunol. .

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease, arising from mutations of the WAS-protein (WASP) gene. Previously, we have reported that mononuclear cells from WAS patients showed lack/reduced of the intracellular WASP (WASP(dim)) by flow cytometric analysis, and analysis of WASP by flow cytometry (FCM-WASP) was useful for WAS diagnosis. In this study, we report a WAS patient who showed the unique pattern of FCM-WASP. The patient had the small population of normal expression of WASP (WASP(bright)) mononuclear cells together with the major WASP(dim) population. The WASP(bright) cells were detected in T cells, not in B cells or in monocytes. Surprisingly, the molecular studies of the WASP(bright) cells revealed that the inherited mutation of WASP gene was reversed to normal. His mother was proved as a WAS carrier, and HLA studies and microsatellite polymorphic studies proved that the WASP(bright) cells were derived from the patient himself. Therefore, we concluded that the WASP(bright) cells were resulted from spontaneous in vivo reversion of the inherited mutation. Furthermore, the scanning electron microscopic studies indicated that WASP-positive cells from the patient restored the dense microvillus surface projections that were hardly observed in the WASP(dim) cells. This case might have significant implications regarding the prospects of the future gene therapy for WAS patients.

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