Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11).

This study demonstrated that this novel I CARD11 i variant is a pathogenic DN mutation by in vitro experiments, which is consistent with a previous study reporting I52T as a nonfunctional mutation [[4]]. I CARD11 i homozygous null mutations clinically lead to severe combined immunodeficiency, and dominant negative (DN) mutations in I CARD11 i have also been identified as a risk locus for atopy and combined immunodeficiency [[2]]. Heterozygous gain-of-function mutations of I CARD11 i have been identified in patients with the selective B cell lymphoproliferative disease known as B cell expansion with NF-kB and T cell anergy [[2]]. [Extracted from the article]