Atypical Wiskott-Aldrich syndrome in a girl
ME Conley, WC Wang, O Parolini, DN Shapiro, D Campana and KA Siminovitch
University of Tennessee, Memphis.
Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive
disorder characterized by thrombocytopenia with small platelets, eczema,
and defects of both T-cell and B-cell immunity. Obligate carriers of this
disorder show no signs of the gene defect because in the cell lineages
primarily affected by the disorder they demonstrate preferential use of the
normal, nonmutant X as the active X. This can be explained by the selective
disadvantage in proliferation and/or survival experienced by the cells with
the mutant X as the active X. We have recently evaluated an 8-year-old girl
with a disorder phenotypically identical to WAS. Cytogenetic studies did
not show any structural abnormalities of the X chromosome and X chromosome
inactivation analysis showed that both of her X chromosomes could function
as the active X. These findings suggest that there is an autosomal
recessive disorder that is very similar to classic WAS.
Volume 80,
Issue 5,
pp. 1264-1269,
09/01/1992
Copyright © 1992 by The American Society of Hematology
