Article
A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.
Clinical immunology (Orlando, Fla.) - 1 Nov 2014
Flinsenberg Thijs W H, Janssen Willemijn J, Herczenik Eszter, Boross Peter, Nederend Maaike, Jongeneel Lieneke H, Scholman Rianne C, Boelens Jaap-Jan, Maas Coen, van Gijn Marielle E, van Montfrans Joris M, Leusen Jeanette H, Boes Marianne
Abstract excerpt
We identified a novel Q27W FcγRIIa variant that was found more frequently in common variable immunodeficiency (CVID) or CVID-like children. We analyzed the possible functional consequence of the Q27W FcγRIIa mutation in human cells. We used peripheral blood mononuclear cells from Q27W FcγRIIa patients and healthy controls, and cultured cells that overexpress the Q27W and common FcγRIIa variants. The Q27W FcγRIIa...
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