Atypical Wiskott-Aldrich syndrome in a girl

M. E. Conley, W. C. Wang, Ornella Parolini, D. N. Shapiro, D. Campana, K. A. Siminovitch

Risultato della ricerca: Contributo in rivistaArticolo in rivista

26 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)1264-1269
Numero di pagine6
RivistaBlood
Volume80
DOI
Stato di pubblicazionePubblicato - 1992

Keywords

  • Antigens, CD
  • Antigens, CD43
  • Child
  • Female
  • Humans
  • Immunoglobulin M
  • Sialoglycoproteins
  • Wiskott-Aldrich Syndrome
  • X Chromosome

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