Literature DB >> 24326742

XIAP deficiency is a mendelian cause of late-onset IBD.

Carsten Speckmann1, Stephan Ehl.   

Abstract

Entities:  

Keywords:  IBD - GENETICS; IBD CLINICAL; IMMUNODEFICIENCY; SCREENING

Mesh：

Year:  2013        PMID： 24326742     DOI： 10.1136/gutjnl-2013-306474

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


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  22 in total

1.  A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Authors:  S Ammann; R Elling; M Gyrd-Hansen; G Dückers; R Bredius; S O Burns; J D M Edgar; A Worth; H Brandau; K Warnatz; U Zur Stadt; P Hasselblatt; K Schwarz; S Ehl; C Speckmann
Journal:  Clin Exp Immunol       Date:  2014-06       Impact factor: 4.330

2.  IAPs protect host target tissues from graft-versus-host disease in mice.

Authors:  Tomomi Toubai; Corinne Rossi; Katherine Oravecz-Wilson; Chen Liu; Cynthia Zajac; Shin-Rong Julia Wu; Yaping Sun; Hideaki Fujiwara; Hiroya Tamaki; Daniel Peltier; Mary Riwes; Israel Henig; Stuart Brabbs; Colin S Duckett; Shaomeng Wang; Pavan Reddy
Journal:  Blood Adv       Date:  2017-08-16

3.  Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Authors:  Magdalena Dziadzio; Sandra Ammann; Claire Canning; Fiona Boyle; Amel Hassan; Cathy Cale; Mamoun Elawad; Berthe Katrine Fiil; Mads Gyrd-Hansen; Ulrich Salzer; Carsten Speckmann; Bodo Grimbacher
Journal:  J Clin Immunol       Date:  2015-05-06       Impact factor: 8.317

Review 4.  [The gut: center of immunity : Rare inflammatory bowel diseases caused by immunodeficiencies].

Authors:  Carsten Posovszky; Thomas F E Barth
Journal:  Pathologe       Date:  2020-05       Impact factor: 1.011

Review 5.  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

6.  Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Authors:  Jeremy W Prokop; Jozef Lazar; Gabrielle Crapitto; D Casey Smith; Elizabeth A Worthey; Howard J Jacob
Journal:  J Mol Model       Date:  2017-02-15       Impact factor: 1.810

Review 7.  [Features and management of very early onset inflammatory bowel disease].

Authors:  Jie-Yu You
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2018-05

Review 8.  How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.

Authors:  Ole Haagen Nielsen; Eric Charles LaCasse
Journal:  Genet Med       Date:  2016-07-14       Impact factor: 8.822

9.  Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Authors:  Jochen Kammermeier; Robert Dziubak; Matilde Pescarin; Suzanne Drury; Heather Godwin; Kate Reeve; Sibongile Chadokufa; Bonita Huggett; Sara Sider; Chela James; Nikki Acton; Elena Cernat; Marco Gasparetto; Gabi Noble-Jamieson; Fevronia Kiparissi; Mamoun Elawad; Phil L Beales; Neil J Sebire; Kimberly Gilmour; Holm H Uhlig; Chiara Bacchelli; Neil Shah
Journal:  J Crohns Colitis       Date:  2016-06-14       Impact factor: 9.071

10.  The E3 ubiquitin ligase RNF186 and RNF186 risk variants regulate innate receptor-induced outcomes.

Authors:  Kishu Ranjan; Matija Hedl; Clara Abraham
Journal:  Proc Natl Acad Sci U S A       Date:  2021-08-10       Impact factor: 11.205
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