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De Saint Basile, G ; Schlegel, N ; Caniglia, M ; Ledeist, F ; Kaplan, C ; Lecompte, T ; Piller, F ; Fischer, A ; Griscelli, C

X-linked thrombocytopenia and wiskott-aldrich syndrome - similar regional assignment but distinct x-inactivation pattern in carriers

Annals of Hematology 63 (2) 107-110

par Administrateur - publié le , mis à jour le

Abstract :

While inherited X-linked (XL) isolated thrombocytopenia is a mild condition, the Wiskott-Aldrich syndrome (WAS) associates severe thrombocytopenia with an immunodeficiency component and has a poor prognosis. Whether these conditions correspond to separate genetic entities or to different mutations of the same gene(s) remains unresolved. The Wiskott-Aldrich syndrome locus has been assigned to Xp 11.2 by means of RFLP studies. The X-inactivation pattern in female carriers has been found to follow a skewed pattern in the hematopoietic cells, thus allowing carrier detection.