Affordable Access

Defining a new immune deficiency syndrome: MAN2B2-CDG

Authors
  • Verheijen, Jan
  • Wong, Sunnie Y.
  • Rowe, Jared H.
  • Raymond, Kimiyo
  • Stoddard, Jennifer
  • Delmonte, Ottavia M.
  • Bosticardo, Marita
  • Dobbs, Kerry
  • Niemela, Julie
  • Calzoni, Enrica
  • Pai, Sung-Yun
  • Choi, Uimook
  • Yamazaki, Yasuhiro
  • Comeau, Anne Marie
  • Morava, Eva
Publication Date
Mar 01, 2020
Source
[email protected]
Keywords
License
Unknown
External links

Abstract

Congenital disorders of glycosylation (CDGs) are a group of clinically heterogeneous disorders characterized by abnormal monosaccharide activation and protein and lipid glycosylation. More than 147 CDG subtypes have currently been described to affect several glycosylation pathways, including N-glycosylation, O-glycosylation, glycosaminoglycan, dystroglycanopathy, and glycosylphosphatidylinositol (GPI)-anchor pathways. ... Here, we present the functional and metabolic studies on a patient with combined immune deficiency harboring biallelic mutations in the mannosidase alpha class 2B member 2 (MAN2B2) gene, affecting both N-glycan synthesis and glycan degradation ...

Report this publication

Statistics

Seen <100 times