XXXX in a female.

@entity1 @entity882 @entity17454 @entity1112 @entity13308 @entity1200 @entity3230 @entity484
@entity17454 ( @entity17454 ) is an @entity1112 characterized by @entity882 , @entity484 , and various degrees of @entity3230 . Carriers of mutated @entity13308 have nonrandom X chromosome inactivation in their blood cells and are disease-free. We report data on a 14-month-old @entity1 with a history of @entity17454 in her family who presented with @entity882 , small platelets, and @entity1200 . Sequencing of the @entity13308 gene showed that the @entity1 was heterozygous for the splice site mutation previously found in one of her relatives with @entity17454 . Sequencing of all @entity13308 exons revealed no other mutation. Levels of @entity13308 in blood mononuclear cells were 60% of normal. Flow cytometry after intracellular staining of peripheral blood mononuclear cells with @entity13308 monoclonal antibody revealed both @entity13308 (bright) and @entity13308 (dim) populations. X chromosome inactivation in the @entity1 's blood cells was found to be random, demonstrating that both maternal and paternal active X chromosomes are present. These findings indicate that the female @entity1 has a defect in the mechanisms that lead in disease-free @entity17454 carriers to preferential survival/proliferation of cells bearing the active wild-type X chromosome. Whereas the @entity1 's lymphocytes are skewed toward @entity13308 (bright) cells, about 65% of her monocytes and the majority of her B cells (CD19(+)) are @entity13308 (dim). Her naive T cells (CD3(+)CD45RA(+)) include @entity13308 (bright) and @entity13308 (dim) populations, but her memory T cells (CD3(+)CD45RA(-)) are all @entity13308 (bright). After activation in vitro of T cells, all cells exhibited CD3(+)CD45RA(-) phenotype and most were @entity13308 (bright) with active paternal (wild-type) X chromosome, suggesting selection against the mutated @entity13308 allele during terminal T-cell maturation/differentiation.
