Defining a new immune deficiency syndrome: MAN2B2-CDG

J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24.


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.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Child
  • Female
  • Glycosylation
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Mannosidase Deficiency Diseases / genetics*
  • alpha-Mannosidase / genetics*


  • alpha-Mannosidase