Editorial: Inborn errors of immunity and mucosal immunity by Elena Wen-Yuan Hsieh, Elena Wen-Yuan Hsieh, Scott B. Snapper, Edwin F. de Zoeten

Get full text

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort by Sek Won Kong, In-Hee Lee, Lauren V. Collen, Michael Field, Arjun K. Manrai, Scott B. Snapper, Kenneth D. Mandl

Get full text

Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report by Lauren V. Collen, Carlos Andres Salgado, Bin Bao, Erin Janssen, Dascha Weir, Jeffrey Goldsmith, Alan Leichtner, Nasim Sabery Khavari, Yael Gernez, Scott B. Snapper

Get full text

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features by Mutaz Sultan, Mohammad Adawi, Nitzan Kol, Nitzan Kol, Nitzan Kol, Blake McCourt, Blake McCourt, Ihda Adawi, Liran Baram, Liran Baram, Noa Tal, Noa Tal, Lael Werner, Lael Werner, Atar Lev, Atar Lev, Atar Lev, Atar Lev, Scott B. Snapper, Scott B. Snapper, Ortal Barel, Ortal Barel, Ortal Barel, Liza Konnikova, Liza Konnikova, Raz Somech, Raz Somech, Raz Somech, Raz Somech, Dror S. Shouval, Dror S. Shouval

Get full text

Macrophage dysfunction initiates colitis during weaning of infant mice lacking the interleukin-10 receptor by Naresh S Redhu, Vasudevan Bakthavatchalu, Evan A Conaway, Dror S Shouval, Amy Tsou, Jeremy A Goettel, Amlan Biswas, Chuanwu Wang, Michael Field, Werner Muller, Andre Bleich, Ning Li, Georg K Gerber, Lynn Bry, James G Fox, Scott B Snapper, Bruce H Horwitz

Get full text

Bacterial Sphingolipids Exacerbate Colitis by Inhibiting ILC3-derived IL-22 ProductionSummary by Bin Bao, Youyuan Wang, Pavl Boudreau, Xinyang Song, Meng Wu, Xi Chen, Izabel Patik, Ying Tang, Jodie Ouahed, Amit Ringel, Jared Barends, Chuan Wu, Emily Balskus, Jay Thiagarajah, Jian Liu, Michael R. Wessels, Wayne Isaac Lencer, Dennis L. Kasper, Dingding An, Bruce Harold Horwitz, Scott B. Snapper

Get full text

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes by Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz

Get full text

Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease by Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M Carrami, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson

Get full text