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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Standard

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. / Ravell, Juan C; Matsuda-Lennikov, Mami; Chauvin, Samuel D; Zou, Juan; Biancalana, Matthew; Deeb, Sally J; Price, Susan; Su, Helen C; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle W; Mukherjee, Ratnadeep; Anibal, James T; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B; Pittaluga, Stefania; Powers, Astin; Kleiner, David E; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R; Matthews, Helen; Angelus, Pam; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia M; Franco, Jose Luis; Orrego-Arango, Julio; Gutiérrez-Hincapié, Sebastian; Patel, Niraj Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre Gr; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S; Malech, Harry L; Altan-Bonnet, Grégoire; Rao, V Koneti; Mann, Matthias; Lenardo, Michael J.

I: The Journal of Clinical Investigation, 05.11.2019.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Ravell, JC, Matsuda-Lennikov, M, Chauvin, SD, Zou, J, Biancalana, M, Deeb, SJ, Price, S, Su, HC, Notarangelo, G, Jiang, P, Morawski, A, Kanellopoulou, C, Binder, KW, Mukherjee, R, Anibal, JT, Sellers, B, Zheng, L, He, T, George, AB, Pittaluga, S, Powers, A, Kleiner, DE, Kapuria, D, Ghany, M, Hunsberger, S, Cohen, JI, Uzel, G, Bergerson, J, Wolfe, L, Toro, C, Gahl, W, Folio, LR, Matthews, H, Angelus, P, Chinn, IK, Orange, JS, Trujillo-Vargas, CM, Franco, JL, Orrego-Arango, J, Gutiérrez-Hincapié, S, Patel, NC, Raymond, K, Patiroglu, T, Unal, E, Karakukcu, M, Day, AG, Mehta, P, Masutani, E, De Ravin, SS, Malech, HL, Altan-Bonnet, G, Rao, VK, Mann, M & Lenardo, MJ 2019, 'Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease', The Journal of Clinical Investigation. https://doi.org/10.1172/JCI131116

APA

Ravell, J. C., Matsuda-Lennikov, M., Chauvin, S. D., Zou, J., Biancalana, M., Deeb, S. J., ... Lenardo, M. J. (2019). Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. The Journal of Clinical Investigation. https://doi.org/10.1172/JCI131116

Vancouver

Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ o.a. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. The Journal of Clinical Investigation. 2019 nov 5. https://doi.org/10.1172/JCI131116

Author

Ravell, Juan C ; Matsuda-Lennikov, Mami ; Chauvin, Samuel D ; Zou, Juan ; Biancalana, Matthew ; Deeb, Sally J ; Price, Susan ; Su, Helen C ; Notarangelo, Giulia ; Jiang, Ping ; Morawski, Aaron ; Kanellopoulou, Chrysi ; Binder, Kyle W ; Mukherjee, Ratnadeep ; Anibal, James T ; Sellers, Brian ; Zheng, Lixin ; He, Tingyan ; George, Alex B ; Pittaluga, Stefania ; Powers, Astin ; Kleiner, David E ; Kapuria, Devika ; Ghany, Marc ; Hunsberger, Sally ; Cohen, Jeffrey I ; Uzel, Gulbu ; Bergerson, Jenna ; Wolfe, Lynne ; Toro, Camilo ; Gahl, William ; Folio, Les R ; Matthews, Helen ; Angelus, Pam ; Chinn, Ivan K ; Orange, Jordan S ; Trujillo-Vargas, Claudia M ; Franco, Jose Luis ; Orrego-Arango, Julio ; Gutiérrez-Hincapié, Sebastian ; Patel, Niraj Chandrakant ; Raymond, Kimiyo ; Patiroglu, Turkan ; Unal, Ekrem ; Karakukcu, Musa ; Day, Alexandre Gr ; Mehta, Pankaj ; Masutani, Evan ; De Ravin, Suk S ; Malech, Harry L ; Altan-Bonnet, Grégoire ; Rao, V Koneti ; Mann, Matthias ; Lenardo, Michael J. / Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. I: The Journal of Clinical Investigation. 2019.

Bibtex

@article{dec531c699c74b0ca72a98b785f5d4ff,
title = "Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease",
abstract = "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 gene (MAGT1). We studied 23 XMEN patients, 8 of whom were EBV-na{\"i}ve. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum, and increased CD4-CD8-B220-TCRalpha/beta+ T (abDNT) cells, 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 investigated XMEN patients and autoimmune lymphoproliferative syndrome (ALPS) patients by deep immunophenotyping (32 immune markers) using Time of Flight Mass Cytometry (CyTOF). Our analysis revealed that the abundance of two populations of na{\"i}ve 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 normal 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.",
author = "Ravell, {Juan C} and Mami Matsuda-Lennikov and Chauvin, {Samuel D} and Juan Zou and Matthew Biancalana and Deeb, {Sally J} and Susan Price and Su, {Helen C} and Giulia Notarangelo and Ping Jiang and Aaron Morawski and Chrysi Kanellopoulou and Binder, {Kyle W} and Ratnadeep Mukherjee and Anibal, {James T} and Brian Sellers and Lixin Zheng and Tingyan He and George, {Alex B} and Stefania Pittaluga and Astin Powers and Kleiner, {David E} and Devika Kapuria and Marc Ghany and Sally Hunsberger and Cohen, {Jeffrey I} and Gulbu Uzel and Jenna Bergerson and Lynne Wolfe and Camilo Toro and William Gahl and Folio, {Les R} and Helen Matthews and Pam Angelus and Chinn, {Ivan K} and Orange, {Jordan S} and Trujillo-Vargas, {Claudia M} and Franco, {Jose Luis} and Julio Orrego-Arango and Sebastian Guti{\'e}rrez-Hincapi{\'e} and Patel, {Niraj Chandrakant} and Kimiyo Raymond and Turkan Patiroglu and Ekrem Unal and Musa Karakukcu and Day, {Alexandre Gr} and Pankaj Mehta and Evan Masutani and {De Ravin}, {Suk S} and Malech, {Harry L} and Gr{\'e}goire Altan-Bonnet and Rao, {V Koneti} and Matthias Mann and Lenardo, {Michael J}",
year = "2019",
month = "11",
day = "5",
doi = "10.1172/JCI131116",
language = "English",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "American Society for Clinical Investigation",

}

RIS

TY - JOUR

T1 - Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

AU - Ravell, Juan C

AU - Matsuda-Lennikov, Mami

AU - Chauvin, Samuel D

AU - Zou, Juan

AU - Biancalana, Matthew

AU - Deeb, Sally J

AU - Price, Susan

AU - Su, Helen C

AU - Notarangelo, Giulia

AU - Jiang, Ping

AU - Morawski, Aaron

AU - Kanellopoulou, Chrysi

AU - Binder, Kyle W

AU - Mukherjee, Ratnadeep

AU - Anibal, James T

AU - Sellers, Brian

AU - Zheng, Lixin

AU - He, Tingyan

AU - George, Alex B

AU - Pittaluga, Stefania

AU - Powers, Astin

AU - Kleiner, David E

AU - Kapuria, Devika

AU - Ghany, Marc

AU - Hunsberger, Sally

AU - Cohen, Jeffrey I

AU - Uzel, Gulbu

AU - Bergerson, Jenna

AU - Wolfe, Lynne

AU - Toro, Camilo

AU - Gahl, William

AU - Folio, Les R

AU - Matthews, Helen

AU - Angelus, Pam

AU - Chinn, Ivan K

AU - Orange, Jordan S

AU - Trujillo-Vargas, Claudia M

AU - Franco, Jose Luis

AU - Orrego-Arango, Julio

AU - Gutiérrez-Hincapié, Sebastian

AU - Patel, Niraj Chandrakant

AU - Raymond, Kimiyo

AU - Patiroglu, Turkan

AU - Unal, Ekrem

AU - Karakukcu, Musa

AU - Day, Alexandre Gr

AU - Mehta, Pankaj

AU - Masutani, Evan

AU - De Ravin, Suk S

AU - Malech, Harry L

AU - Altan-Bonnet, Grégoire

AU - Rao, V Koneti

AU - Mann, Matthias

AU - Lenardo, Michael J

PY - 2019/11/5

Y1 - 2019/11/5

N2 - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 gene (MAGT1). We studied 23 XMEN patients, 8 of whom were EBV-naïve. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum, and increased CD4-CD8-B220-TCRalpha/beta+ T (abDNT) cells, 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 investigated XMEN patients and autoimmune lymphoproliferative syndrome (ALPS) patients by deep immunophenotyping (32 immune markers) using Time of Flight Mass Cytometry (CyTOF). Our analysis revealed that the abundance of two populations of naïve 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 normal 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.

AB - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 gene (MAGT1). We studied 23 XMEN patients, 8 of whom were EBV-naïve. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum, and increased CD4-CD8-B220-TCRalpha/beta+ T (abDNT) cells, 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 investigated XMEN patients and autoimmune lymphoproliferative syndrome (ALPS) patients by deep immunophenotyping (32 immune markers) using Time of Flight Mass Cytometry (CyTOF). Our analysis revealed that the abundance of two populations of naïve 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 normal 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.

U2 - 10.1172/JCI131116

DO - 10.1172/JCI131116

M3 - Journal article

C2 - 31714901

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

ER -

ID: 230896116