label: IKBKG-related immunodeficiency with or without ectodermal dysplasia
label_lc: ikbkg-related immunodeficiency with or without ectodermal dysplasia
description: "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)."