Frontiers in immunology
Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygous IKBKG frameshift variant: a case report and literature review
By Xuan Y, Chang X, Yang Y and 1 others.
Abstract
Objective
This case report looks at a child's ectodermal dysplasia with immunodeficiency (EDA-ID), caused by a mutation in the IKBKG gene, and other relevant cases.
Methods
A pediatric patient diagnosed with EDA-ID was examined at Shanxi Bethune Hospital in July 2025. Clinical data were systematically collected, and whole-exome sequencing (WES) was performed on blood samples from the patient and their family members to identify potential pathogenic variants. Segregation analysis and a comprehensive literature review were performed.
