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Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.

Gastroenterology. 2018; 
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 Fran?ois,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 Den
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Peptide Synthesis encoding human wild type XIAP and mutants S123N, R233Q, P257A and C327Y synthesized by GenScript Get A Quote

摘要

A few rare monogenic primary immunodeficiencies (PIDs) are characterized by chronic intestinal inflammation that resembles Crohn's disease (CD). We investigated whether 23 genes associated with 10 of these monogenic disorders contain common, low-frequency, or rare?variants that increase risk for CD.

关键词

Candidate Gene Approach,Complex Trait,Inflammatory?Bowel Disease,Mendelian Diso
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