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X Linked Thrombocytopenia A Rare Cause of Thrombocytopenia

Siva Prasad Vyasam V A, Anu Punnen and S .

Abstract


       

            The Wiskott Aldrich Syndrome (WAS)-related        disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene.          X-linked Thrombocytopenia is a milder variant of WAS     spectrum disorder which present with thrombocytopenia.  Immunodeficency and skin manifestations rather rare in this group which is caused mainly my missense mutation. In this report , we have an infant with thrombocytopenia who was diagnosed to have X Linked thrombocytopenia based on  clinical features and genetic analysis.


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References


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