IKBKG-related immunodeficiency with or without ectodermal dysplasia

MONDO:0100162

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).

Also known as: NEMO related ID/EDA-ID

18 clinical trials for this condition and its sub-types.

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