Details of Disease

General Information of Disease (ID: DISBPHHV)

Disease Name IKBKG-related immunodeficiency with or without ectodermal dysplasia
Synonyms NEMO related ID/EDA-ID
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-B activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).
Disease Hierarchy
DIS093I0: Immunodeficiency
DISBPHHV: IKBKG-related immunodeficiency with or without ectodermal dysplasia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKG OTNWJWSD Definitive X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.