IKBKG-related immunodeficiency with or without ectodermal dysplasia
NEMO related ID/EDA-ID
exact
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).
MONDO:0021094
immunodeficiency disease
is_a