Recurrent inflammatory disease caused by a heterozygous mutation in CD48

Sufficient cell surface expression of CD48 is needed to (i) control inflammation, (ii) ensure correct natural killer cell maturation and function, and (iii) regulate target cell susceptibility to cytotoxicity.

Source: Journal of Allergy and Clinical Immunology - August 12, 2019 Category: Allergy & Immunology Authors: Benjamin Volkmer, Raquel Planas, Emanuel Gossweiler, Anna L ünemann, Lennart Opitz, Andrea Mauracher, Ursina Nüesch, Tenzin Gayden, Daniela Kaiser, Barbara Drexel, Claudia Dumrese, Nada Jabado, Stefano Vavassori, Jana Pachlopnik Schmid Source Type: research