Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease.

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

Journal of Allergy and Clinical Immunology（2019）

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摘要

These results illuminate a broader phenotypic spectrum associated with CARD11 mutations in humans, and underscore the need for functional studies to demonstrate that rare gene variants encountered in expected and unexpected phenotypes must nonetheless be validated for pathogenic activity.

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关键词

CARD11,atopy,atopic dermatitis,dominant negative,primary immunodeficiency,immune dysregulation

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