Literature DB >> 26584814

Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency.

Rosa Coelho1, Armando Peixoto1, Jorge Amil-Dias2, Eunice Trindade2, Miguel Campos3, Sofia Magina4, Fabienne Charbit-Henrion5,6, Christelle Lenoir7, Sylvain Latour7, Fernando Magro8,9, Guilherme Macedo1.   

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Year:  2015        PMID： 26584814     DOI： 10.1007/s00384-015-2442-0

Source DB:  PubMed          Journal:  Int J Colorectal Dis        ISSN： 0179-1958            Impact factor:   2.571


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  4 in total

Review 1.  X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.

Authors:  Claire Aguilar; Sylvain Latour
Journal:  J Clin Immunol       Date:  2015-03-04       Impact factor: 8.317

2.  XIAP variants in male Crohn's disease.

Authors:  Yvonne Zeissig; Britt-Sabina Petersen; Snezana Milutinovic; Esther Bosse; Gabriele Mayr; Kenneth Peuker; Jelka Hartwig; Andreas Keller; Martina Kohl; Martin W Laass; Susanne Billmann-Born; Heide Brandau; Alfred C Feller; Christoph Röcken; Martin Schrappe; Philip Rosenstiel; John C Reed; Stefan Schreiber; Andre Franke; Sebastian Zeissig
Journal:  Gut       Date:  2014-02-26       Impact factor: 23.059

3.  X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Authors:  C Speckmann; K Lehmberg; M H Albert; R B Damgaard; M Fritsch; M Gyrd-Hansen; A Rensing-Ehl; T Vraetz; B Grimbacher; U Salzer; I Fuchs; H Ufheil; B H Belohradsky; A Hassan; C M Cale; M Elawad; B Strahm; S Schibli; M Lauten; M Kohl; J J Meerpohl; B Rodeck; R Kolb; W Eberl; J Soerensen; H von Bernuth; M Lorenz; K Schwarz; U Zur Stadt; S Ehl
Journal:  Clin Immunol       Date:  2013-07-31       Impact factor: 3.969

4.  Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Authors:  Elizabeth A Worthey; Alan N Mayer; Grant D Syverson; Daniel Helbling; Benedetta B Bonacci; Brennan Decker; Jaime M Serpe; Trivikram Dasu; Michael R Tschannen; Regan L Veith; Monica J Basehore; Ulrich Broeckel; Aoy Tomita-Mitchell; Marjorie J Arca; James T Casper; David A Margolis; David P Bick; Martin J Hessner; John M Routes; James W Verbsky; Howard J Jacob; David P Dimmock
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822
  4 in total
  2 in total

1.  Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Authors:  Fabienne Charbit-Henrion; Marianna Parlato; Sylvain Hanein; Rémi Duclaux-Loras; Jan Nowak; Bernadette Begue; Sabine Rakotobe; Julie Bruneau; Cécile Fourrage; Olivier Alibeu; Frédéric Rieux-Laucat; Eva Lévy; Marie-Claude Stolzenberg; Fabienne Mazerolles; Sylvain Latour; Christelle Lenoir; Alain Fischer; Capucine Picard; Marina Aloi; Jorge Amil Dias; Mongi Ben Hariz; Anne Bourrier; Christian Breuer; Anne Breton; Jiri Bronski; Stephan Buderus; Mara Cananzi; Stéphanie Coopman; Clara Crémilleux; Alain Dabadie; Clémentine Dumant-Forest; Odul Egritas Gurkan; Alexandre Fabre; Aude Fischer; Marta German Diaz; Yago Gonzalez-Lama; Olivier Goulet; Graziella Guariso; Neslihan Gurcan; Matjaz Homan; Jean-Pierre Hugot; Eric Jeziorski; Evi Karanika; Alain Lachaux; Peter Lewindon; Rosa Lima; Fernando Magro; Janos Major; Georgia Malamut; Emmanuel Mas; Istvan Mattyus; Luisa M Mearin; Jan Melek; Victor Manuel Navas-Lopez; Anders Paerregaard; Cecile Pelatan; Bénédicte Pigneur; Isabel Pinto Pais; Julie Rebeuh; Claudio Romano; Nadia Siala; Caterina Strisciuglio; Michela Tempia-Caliera; Patrick Tounian; Dan Turner; Vaidotas Urbonas; Stéphanie Willot; Frank M Ruemmele; Nadine Cerf-Bensussan
Journal:  J Crohns Colitis       Date:  2018-08-29       Impact factor: 9.071

2.  Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Authors:  Jiamei Tang; Xiaoying Zhou; Lan Wang; Guorui Hu; Bixia Zheng; Chunli Wang; Yan Lu; Yu Jin; Hongmei Guo; Zhifeng Liu
Journal:  BMC Pediatr       Date:  2020-04-18       Impact factor: 2.125
  2 in total

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