scholarly journals A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Judith R. Kelsen ◽  
Noor Dawany ◽  
Alejuandro Martinez ◽  
Christopher M. Grochowski ◽  
Kelly Maurer ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Case Report ◽  
Exome Sequencing ◽  
Bowel Disease ◽  
Early Onset ◽  
Gene Deletion ◽  
De Novo ◽  
Sequencing Analysis ◽  
Inflammatory Bowel

O-026 Exome Sequencing Analysis of Candidate Genes in Very Early Onset Inflammatory Bowel Disease

2013 ◽  
Vol 19 ◽  
pp. S15-S16
Author(s):  
Judith Kelsen ◽  
Christopher Moran ◽  
Kernika Gupta ◽  
Helen Pauly-Hubbard ◽  
Samantha Fish ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Bowel Disease ◽  
Early Onset ◽  
Sequencing Analysis ◽  
Inflammatory Bowel

scholarly journals Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease

2015 ◽  
Vol 149 (6) ◽  
pp. 1415-1424 ◽  
Author(s):  
Judith R. Kelsen ◽  
Noor Dawany ◽  
Christopher J. Moran ◽  
Britt-Sabina Petersen ◽  
Mahdi Sarmady ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Exome Sequencing ◽  
Primary Immunodeficiency ◽  
Bowel Disease ◽  
Early Onset ◽  
Sequencing Analysis ◽  
Inflammatory Bowel

scholarly journals Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Kosuke Taniguchi ◽  
Mikihiro Inoue ◽  
Katsuhiro Arai ◽  
Keiichi Uchida ◽  
Osuke Migita ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Bowel Disease ◽  
Early Onset ◽  
De Novo ◽  
Loss Of Function ◽  
Whole Exome ◽  
Inflammatory Bowel

AbstractA20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).

scholarly journals Interleukin-10 Receptor Down-Expression in Early-Onset Inflammatory Bowel Disease: A Case-Report

2011 ◽  
Vol 140 (5) ◽  
pp. S-513
Author(s):  
Marina De Rosa ◽  
Lucia Quaglietta ◽  
Caterina Friano ◽  
Martina Galatola ◽  
Erasmo Miele ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Case Report ◽  
Bowel Disease ◽  
Early Onset ◽  
Interleukin 10 ◽  
Inflammatory Bowel

scholarly journals Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report

2020 ◽  
Vol 26 (15) ◽  
pp. 1841-1846
Author(s):  
Andrew Fagbemi ◽  
William G Newman ◽  
Stuart G Tangye ◽  
Stephen M Hughes ◽  
Edmund Cheesman ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Case Report ◽  
Bowel Disease ◽  
Early Onset ◽  
Trna Synthetase ◽  
Synthetase Deficiency ◽  
Inflammatory Bowel
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