Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients with Very Early Onset Inflammatory Bowel Disease
Immunologic Deficiency Syndromes
Inflammatory Bowel Diseases
In an exome sequence analysis of patients with VEO-IBD and their parents, we identified variants in genes that regulate B- and T-cell functions and could contribute to pathogenesis. Our analysis could lead to the identification of previously unidentified IBD-associated variants.