Literature DB >> 25023582

Inflammatory Bowel Disease With Lethal Disease Course Caused by a Nonsense Mutation in BIRC4 Encoding X-Linked Inhibitor of Apoptosis Protein (XIAP).

Ömer F Beşer1, Cecilia D Conde, Tufan Kutlu, Fügen Çullu Çokuğraş, Kaan Boztuğ, Tülay Erkan.   

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Year:  2016        PMID: 25023582     DOI: 10.1097/MPG.0000000000000504

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN: 0277-2116            Impact factor:   2.839


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  3 in total

Review 1.  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

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

3.  Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Authors:  Alexandra Y Kreins; Michael J Ciancanelli; Satoshi Okada; Xiao-Fei Kong; Noé Ramírez-Alejo; Sara Sebnem Kilic; Jamila El Baghdadi; Shigeaki Nonoyama; Seyed Alireza Mahdaviani; Fatima Ailal; Aziz Bousfiha; Davood Mansouri; Elma Nievas; Cindy S Ma; Geetha Rao; Andrea Bernasconi; Hye Sun Kuehn; Julie Niemela; Jennifer Stoddard; Paul Deveau; Aurelie Cobat; Safa El Azbaoui; Ayoub Sabri; Che Kang Lim; Mikael Sundin; Danielle T Avery; Rabih Halwani; Audrey V Grant; Bertrand Boisson; Dusan Bogunovic; Yuval Itan; Marcela Moncada-Velez; Ruben Martinez-Barricarte; Melanie Migaud; Caroline Deswarte; Laia Alsina; Daniel Kotlarz; Christoph Klein; Ingrid Muller-Fleckenstein; Bernhard Fleckenstein; Valerie Cormier-Daire; Stefan Rose-John; Capucine Picard; Lennart Hammarstrom; Anne Puel; Saleh Al-Muhsen; Laurent Abel; Damien Chaussabel; Sergio D Rosenzweig; Yoshiyuki Minegishi; Stuart G Tangye; Jacinta Bustamante; Jean-Laurent Casanova; Stéphanie Boisson-Dupuis
Journal:  J Exp Med       Date:  2015-08-24       Impact factor: 14.307

  3 in total

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