Defining a new immune deficiency syndrome: MAN2B2-CDG

We describe the first case of MAN2B2 deficiency in a patient with immune dysregulation, developmental delay, and stroke. Altered mannosylation profile was restored in patient cells upon transduction of wild-type MAN2B2.

Source: Journal of Allergy and Clinical Immunology - November 23, 2019 Category: Allergy & Immunology Authors: Jan Verheijen, Sunnie Y. Wong, Jared H. Rowe, Kimiyo Raymond, Jennifer Stoddard, Ottavia M. Delmonte, Marita Bosticardo, Kerry Dobbs, Julie Niemela, Enrica Calzoni, Sung-Yun Pai, Uimook Choi, Yasuhiro Yamazaki, Anne Marie Comeau, Erin Janssen, Lauren Hend Source Type: research