LAUSR

EDA-ID: ectodermal dysplasia and immunodeficiency NEMO: nuclear factor-kB (NF-kB) essential modulator NF-kB: nuclear factor-kB PID: primary immunodeficiency disorder INTRODUCTION Hypomorphicmutations in the IKBKG gene, which encodes nuclear factor-kB (NF-kB) essential modulator (NEMO), on the X chromosome, can lead to the ectodermal dysplasia and immunodeficiency (EDAID) syndrome. The clinical presentation of EDA-ID is protean depending on factors, including penetrance and the impact of specific NEMOmutations. In some cases, patients may present with primary immunodeficiency disorders (PID) without evidence of ectodermal dysplasia. Here, we report a novel mutation of IKBKG (NEMO) at Y308 in a middle-aged man, identified due to recurrent mycobacterial infections without evidence of ectodermal dysplasia.