A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.

Abstract excerpt

Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We...

Topics

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• ATP Binding Cassette Transporter 1
• Bone Marrow
• ABCA1 gene
• Mutation
• Tangier Disease