Defining a new immune deficiency syndrome: MAN2B2-CDG

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 Henderson; Melissa Hazen; Gerard Berry; Sergio D Rosenzweig; Hasan Hamdan Aldhekri; Miao He; Luigi D Notarangelo; Eva Morava

doi:10.1016/j.jaci.2019.11.016

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.

Authors

Jan Verheijen¹, Sunnie Y Wong², Jared H Rowe³, Kimiyo Raymond⁴, Jennifer Stoddard⁵, Ottavia M Delmonte⁶, Marita Bosticardo⁶, Kerry Dobbs⁶, Julie Niemela⁵, Enrica Calzoni⁶, Sung-Yun Pai⁷, Uimook Choi⁶, Yasuhiro Yamazaki⁶, Anne Marie Comeau⁸, Erin Janssen³, Lauren Henderson³, Melissa Hazen³, Gerard Berry⁹, Sergio D Rosenzweig⁵, Hasan Hamdan Aldhekri¹⁰, Miao He¹¹, Luigi D Notarangelo¹², Eva Morava¹³

Affiliations

¹ Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, Minn.
² Hayward Genetics Center, Tulane University Medical School, New Orleans, La.
³ Division of Immunology, Boston Children's Hospital, Boston, Mass.
⁴ Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minn.
⁵ Immunology Service, Department of Laboratory Medicine, National Institutes of Health, Bethesda, Md.
⁶ Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
⁷ Division of Hematology/Oncology, Boston Children's Hospital, Boston, Mass; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass.
⁸ New England Newborn Screening Program and the Department of Pediatrics, University of Massachusetts Medical School, Worcester, Mass.
⁹ Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Mass.
¹⁰ Section of Pediatric Allergy and Immunology, King Faisal Hospital and Research Center, Riyadh, Saudi Arabia.
¹¹ Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pa. Electronic address: hem@email.chop.edu.
¹² Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: luigi.notarangelo2@nih.gov.
¹³ Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, Minn. Electronic address: Morava-Kozicz.Eva@Mayo.edu.

Abstract

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*

Substances

alpha-Mannosidase

Abstract

Publication types

MeSH terms

Substances

Grants and funding