The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant

Pediatr Allergy Immunol. 2018 Sep;29(6):663-668. doi: 10.1111/pai.12930. Epub 2018 Jun 25.

Henry Y Lu^{1

2}, Mehul Sharma¹, Catherine M Biggs^{1

2}, Yu-Hsuan Huang³, Kevin E Shopsowitz⁴, Patrick Frosk^{5

6}, John J Priatel³, Tamar S Rubin^{5

7}, Stuart E Turvey^{1

2}

¹ Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
² Department of Experimental Medicine, University of British Columbia, Vancouver, BC, Canada.
³ Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
⁴ Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
⁵ Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
⁶ Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.
⁷ Division of Allergy and Clinical Immunology, University of Manitoba, Winnipeg, MB, Canada.

No abstract available

Keywords: CARD11; NF-κB; caspase recruitment domain family member 11; primary immunodeficiency; whole-exome sequencing.

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