Article
Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.
Inflammatory bowel diseases - 1 Dec 2017
Conrad Máire A, Dawany Noor, Sullivan Kathleen E, Devoto Marcella, Kelsen Judith R
Abstract excerpt
BACKGROUND: Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. METHODS: In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate...
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