Ontology highlight
ABSTRACT:
SUBMITTER: Conrad MA
PROVIDER: S-EPMC5685903 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Inflammatory bowel diseases 20171201 12
<h4>Background</h4>Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies.<h4>Methods</h4>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 the child's constellation of symptoms and examination findings.<h4>Result ...[more]