IKBKG-related immunodeficiency with or without ectodermal dysplasia
Findings
No curated finding names IKBKG-related immunodeficiency with or without ectodermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).
Definition from the Mondo Disease Ontology (MONDO:0100162), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKBKGHGNC:5961
- Definitive · ClinGen · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: IKBKG-related immunodeficiency with or without ectodermal dysplasia
- Also called
- NEMO related ID/EDA-ID