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An RTEL1 mutation links to infantile-onset ulcerative colitis and severe immunodeficiency

Ziv, A., Werner, L., Konnikova, L.

Purpose: More than 50 different monogenic disorders causing inflammatory bowel disease (IBD) have been identified. Our goal was to characterize the clinical phenotype, genetic workup, and immunologic alterations in an Ashkenazi Jewish patient that presented during infancy with ulcerative colitis and unique clinical manifestations.

Methods: Immune workup and whole-exome sequencing were performed, along with Sanger sequencing for confirmation. Next-generation sequencing of the TCRB and IgH was conducted for immune repertoire analysis. Telomere length was evaluated by in-gel hybridization assay. Mass cytometry was performed on patient's peripheral blood mononuclear cells, and compared with control subjects and patients with UC.

Citation

Ziv, A., Werner, L., Konnikova, L. "An RTEL1 mutation links to infantile-onset ulcerative colitis and severe immunodeficiency" Journal of Clinical Immunology (2020): DOI: 10.1007/s10875-020-00829-z