作者
Batsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, Michael A Weinreich, Bahar Miraghazadeh, Julia M Hartberger, Stefanie Frey-Jakobs, Stephan Weidinger, Lena Moebus, Andre Franke, Alejandro A Schäffer, Alla Bulashevska, Sebastian Fuchs, Stephan Ehl, Sandhya Limaye, Peter D Arkwright, Tracy A Briggs, Claire Langley, Claire Bethune, Andrew F Whyte, Hana Alachkar, Sergey Nejentsev, Thomas DiMaggio, Celeste G Nelson, Kelly D Stone, Martha Nason, Erica H Brittain, Andrew J Oler, Daniel P Veltri, T Ronan Leahy, Niall Conlon, Maria C Poli, Arturo Borzutzky, Jeffrey I Cohen, Joie Davis, Michele P Lambert, Neil Romberg, Kathleen E Sullivan, Kenneth Paris, Alexandra F Freeman, Laura Lucas, Shanmuganathan Chandrakasan, Sinisa Savic, Sophie Hambleton, Smita Y Patel, Michael B Jordan, Amy Theos, Jeffrey Lebensburger, T Prescott Atkinson, Troy R Torgerson, Ivan K Chinn, Joshua D Milner, Bodo Grimbacher, Matthew C Cook, Andrew L Snow
发表日期
2019/4/1
期刊
Journal of Allergy and Clinical Immunology
卷号
143
期号
4
页码范围
1482-1495
出版商
Mosby
简介
Background
Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream signaling to nuclear factor κB, c-Jun N-terminal kinase, and mechanistic target of rapamycin complex 1. Germline CARD11 mutations cause several distinct primary immune disorders in human subjects, including severe combined immune deficiency (biallelic null mutations), B-cell expansion with nuclear factor κB and T-cell anergy (heterozygous, gain-of-function mutations), and severe atopic disease (loss-of-function, heterozygous, dominant interfering mutations), which has focused attention on CARD11 mutations discovered by using whole-exome sequencing.
Objectives
We sought to determine the molecular actions of an extended allelic series of CARD11 and to characterize the expanding range of clinical phenotypes associated with …
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