Asset Details
Do you wish to reserve the book?
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Do you wish to request the book?
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
2020
Overview
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells (αβDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor. EBV-associated B cell malignancies occurred frequently in EBV-infected patients. We studied patients with XMEN and patients with autoimmune lymphoproliferative syndrome (ALPS) by deep immunophenotyping (32 immune markers) using time-of-flight mass cytometry (CyTOF). Our analysis revealed that the abundance of 2 populations of naive B cells (CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4++CD10+CD38+ and CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4+CD10-CD38-) could differentially classify XMEN, ALPS, and healthy individuals. We also performed glycoproteomics analysis on T lymphocytes and show that XMEN disease is a congenital disorder of glycosylation that affects a restricted subset of glycoproteins. Transfection of MAGT1 mRNA enabled us to rescue proteins with defective glycosylation. Together, these data provide new clinical and pathophysiological foundations with important ramifications for the diagnosis and treatment of XMEN disease.
Publisher
American Society for Clinical Investigation
Subject
/ Autoimmune Lymphoproliferative Syndrome - genetics
/ Autoimmune Lymphoproliferative Syndrome - immunology
/ Autoimmune Lymphoproliferative Syndrome - pathology
/ B cells
/ Biopsy
/ Cation Transport Proteins - genetics
/ Cation Transport Proteins - immunology
/ Defects
/ Disease
/ Diseases
/ Female
/ Genes
/ Histocompatibility antigen HLA
/ Humans
/ Immunologic deficiency syndromes
/ Liver
/ Lymphoma
/ Magnesium Deficiency - genetics
/ Magnesium Deficiency - immunology
/ Magnesium Deficiency - pathology
/ Male
/ Males
/ mRNA
/ Mutation
/ Patients
/ Peptides
/ Proteins
/ RNA
/ Scientific equipment industry
/ Septum
/ T cells
/ Time
/ X-Linked Combined Immunodeficiency Diseases - genetics
