A Spectrum of Genetic Variants Contributes to Immune Defects and Pathogenesis of Inflammatory Bowel Diseases

被引：6

作者：

Uhlig, Holm H. ^{[1
,2
]}

Booth, Claire ^{[3
,4
]}

机构：

[1] Univ Oxford, Translat Gastroenterol Unit, Oxford, England

[2] Univ Oxford, Dept Paediat, Oxford, England

[3] UCL, GOS Inst Child Hlth, Mol & Cellular Immunol Sect, London, England

[4] Great Ormond St Hosp Sick Children, Dept Paediat Immunol, London, England

来源：

GASTROENTEROLOGY | 2018年 / 154卷 / 08期

关键词：

X-LINKED INHIBITOR; XIAP DEFICIENCY; CROHNS-DISEASE; CELL TRANSPLANTATION; MUTATIONS; SUSCEPTIBILITY; ASSOCIATION;

D O I：

10.1053/j.gastro.2018.05.001

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：2022 / 2024

页数：3

共 20 条

[1] Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers
Aguilar, Claire
Lenoir, Christelle
Lambert, Nathalie
Begue, Bernadette
Brousse, Nicole
Canioni, Danielle
Berrebi, Dominique
Roy, Maryline
Gerart, Stephane
Chapel, Helen
Schwerd, Tobias
Siproudhis, Laurent
Schaeppi, Michela
Al-Ahmari, Ali
Mori, Masaaki
Yamaide, Akiko
Galicier, Lionel
Neven, Benedicte
Routes, John
Uhlig, Holm H.
Koletzko, Sibylle
Patel, Smita
Kanegane, Hirokazu
Picard, Capucine
Fischer, Alain
Bensussan, Nadine Cerf
Ruemmele, Frank
Hugot, Jean-Pierre
Latour, Sylvain
[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (05) : 1131 - +
[2] Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease
Amininejad, Leila
Charloteaux, Benoit
Theatre, Emilie
Liefferinckx, Claire
Dmitrieva, Julia
Hayard, Pierre
Muls, Vincianne
Maisin, Jean-Marc
Schapira, Michael
Ghislain, Jean-Michel
Closset, Pierre
Talib, Mehdi
Abramowicz, Marc
Momozawa, Yukihide
Deffontaine, Valerie
Crins, Francois
Mni, Myriam
Karim, Latifa
Cambisano, Nadine
Ornemese, Sandra
Zucchi, Alessandro
Minsart, Charlotte
Deviere, Jacques
Hugot, Jean-Pierre
De Vos, Martine
Louis, Edouard
Vermeire, Severine
Van Gossum, Andre
Coppieters, Wouter
Twizere, Jean-Claude
Georges, Michel
Franchimont, Denis
[J]. GASTROENTEROLOGY, 2018, 154 (08) : 2165 - 2177
[3] A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency
Ammann, S.
Elling, R.
Gyrd-Hansen, M.
Dueckers, G.
Bredius, R.
Burns, S. O.
Edgar, J. D. M.
Worth, A.
Brandau, H.
Warnatz, K.
zur Stadt, U.
Hasselblatt, P.
Schwarz, K.
Ehl, S.
Speckmann, C.
[J]. CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2014, 176 (03) : 394 - 400
[4] Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing
Ashton, James J.
Andreoletti, Gaia
Coelho, Tracy
Haggarty, Rachel
Batra, Akshay
Afzal, Nadeem A.
Beattie, R. Mark
Ennis, Sarah
[J]. INFLAMMATORY BOWEL DISEASES, 2016, 22 (10) : 2317 - 2327
[5] Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study
Cleynen, Isabelle
Boucher, Gabrielle
Jostins, Luke
Schumm, L. Philip
Zeissig, Sebastian
Ahmad, Tariq
Andersen, Vibeke
Andrews, Jane M.
Annese, Vito
Brand, Stephan
Brant, Steven R.
Cho, Judy H.
Daly, Mark J.
Dubinsky, Marla
Duerr, Richard H.
Ferguson, Lynnette R.
Franke, Andre
Gearry, Richard B.
Goyette, Philippe
Hakonarson, Hakon
Halfvarson, Jonas
Hov, Johannes R.
Huang, Hailang
Kennedy, Nicholas A.
Kupcinskas, Limas
Lawrance, Ian C.
Lee, James C.
Satsangi, Jack
Schreiber, Stephan
Theatre, Emilie
van der Meulen-de Jong, Andrea E.
Weersma, Rinse K.
Wilson, David C.
Parkes, Miles
Vermeire, Severine
Rioux, John D.
Mansfield, John
Silverberg, Mark S.
Radford-Smith, Graham
McGovern, Dermot P. B.
Barrett, Jeffrey C.
Lees, Charlie W.
[J]. LANCET, 2016, 387 (10014) : 156 - 167
[6] Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease
Denson, Lee A.
Jurickova, Ingrid
Karns, Rebekah
Shaw, Kelly A.
Cutler, David J.
Okou, David T.
Dodd, Anne
Quinn, Kathryn
Mondal, Kajari
Aronow, Bruce J.
Haberman, Yael
Linn, Aaron
Price, Adam
Bezold, Ramona
Lake, Kathleen
Jackson, Kimberly
Walters, Thomas D.
Griffiths, Anne
Baldassano, Robert N.
Noe, Joshua D.
Hyams, Jeffrey S.
Crandall, Wallace V.
Kirschner, Barbara S.
Heyman, Melvin B.
Snapper, Scott
Guthery, Stephen L.
Dubinsky, Marla C.
Leleiko, Neal S.
Otley, Anthony R.
Xavier, Ramnik J.
Stevens, Christine
Daly, Mark J.
Zwick, Michael E.
Kugathasan, Subra
[J]. GASTROENTEROLOGY, 2018, 154 (08) : 2097 - 2110
[7] Variants in Nicotinamide Adenine Dinucleotide Phosphate Oxidase Complex Components Determine Susceptibility to Very Early Onset Inflammatory Bowel Disease
Dhillon, Sandeep S.
Fattouh, Ramzi
Elkadri, Abdul
Xu, Wei
Murchie, Ryan
Walters, Thomas
Guo, Conghui
Mack, David
Huynh, Hien Q.
Baksh, Shairaz
Silverberg, Mark S.
Griffiths, Anne M.
Snapper, Scott B.
Brumell, John H.
Muise, Aleixo M.
[J]. GASTROENTEROLOGY, 2014, 147 (03) : 680 - +
[8] Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients with SH2D1A and XIAP/BIRC4 Mutations
Gifford, Carrie E.
Weingartner, Elizabeth
Villanueva, Joyce
Johnson, Judith
Zhang, Kejian
Filipovich, Alexandra H.
Bleesing, Jack J.
Marsh, Rebecca A.
[J]. CYTOMETRY PART B-CLINICAL CYTOMETRY, 2014, 86 (04) : 263 - 271
[9] Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Glocker, Erik-Oliver
Kotlarz, Daniel
Boztug, Kaan
Gertz, E. Michael
Schaeffer, Alejandro A.
Noyan, Fatih
Perro, Mario
Diestelhorst, Jana
Allroth, Anna
Murugan, Dhaarini
Haetscher, Nadine
Pfeifer, Dietmar
Sykora, Karl-Walter
Sauer, Martin
Kreipe, Hans
Lacher, Martin
Nustede, Rainer
Woellner, Cristina
Baumann, Ulrich
Salzer, Ulrich
Koletzko, Sibylle
Shah, Neil
Segal, Anthony W.
Sauerbrey, Axel
Buderus, Stephan
Snapper, Scott B.
Grimbacher, Bodo
Klein, Christoph
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (21) : 2033 - 2045
[10] Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohn's Disease Development in Chronic Granulomatous Disease
Huang, Chengrui
Ravin, Suk See De
Paul, Adam R.
Heller, Theo
Ho, Nancy
Datta, Lisa Wu
Zerbe, Christa S.
Marciano, Beatriz E.
Kuhns, Douglas B.
Kader, Howard A.
Holland, Steven M.
Malech, Harry L.
Brant, Steven R.
[J]. INFLAMMATORY BOWEL DISEASES, 2016, 22 (12) : 2794 - 2801

← 1 2 →