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Primary Deficiency Of Microsomal Triglyceride Transfer Protein In Human Abetalipoproteinemia Is Associated With Loss Of Cd1 Function, Sebastian Zeissig, Stephanie Dougan, Duarte Barral, Yvonne Junker, Zhangguo Chen, Arthur Kaser, Madelyn Ho, Hannah Mandel, Adam Mcintyre, Susan Kennedy, Gavin Painter, Natacha Veerapen, Gurdyal Besra, Vincenzo Cerundolo, Simon Yue, Sarah Beladi, Samuel Behar, Xiuxu Chen, Jenny Gumperz, Karine Breckpot, Anna Raper, Amanda Baer, Mark Exley, Robert Hegele, Marina Cuchel, Daniel Rader, Nicholas Davidson, Richard Blumberg

Samuel M. Behar

Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP). It is associated with defects in MTP-mediated lipid transfer onto apolipoprotein B (APOB) and impaired secretion of APOB-containing lipoproteins. Recently, MTP was shown to regulate the CD1 family of lipid antigen-presenting molecules, but little is known about immune function in ABL patients. Here, we have shown that ABL is characterized by immune defects affecting presentation of self and microbial lipid antigens by group 1 (CD1a, CD1b, CD1c) and group 2 (CD1d) CD1 molecules. In dendritic cells isolated from ABL patients, …