Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygous IKBKG frameshift variant: a case report...

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.

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.

The patient exhibited symptoms including fever, mucoid bloody stools, and atopic dermatitis. WES analysis revealed the presence of a hemizygous variant, designated c.1167dup (p. Glu390ArgfsTer5), within the IKBKG gene. In accordance with the guidelines established by the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genomics Resource (ClinGen), this variant is classified as pathogenic (PVS1+PS4).

In pediatric patients with early-onset findings, immunodeficiency should be considered after excluding infections, rheumatic or malignancies. Key clinical features that raise suspicion include sparse hair, reduced sweating, dry skin, recurrent infections, treatment-refractory atopic dermatitis, persistently elevated acute-phase inflammatory markers, and immune dysfunction. Genetic testing facilitates early diagnosis, thereby supporting treatment planning. In this study, we identified a pathogenic IKBKG variant (c.1167dupC) in a pediatric patient with EDA-ID via WES, expanding the current understanding of genotype-phenotype correlations.