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X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is described in patients with hypomorphic mutations in IKBKG (the inhibitory kappaB kinase gamma gene), which encodes nuclear factor kappaB essential modulator (NEMO). Features include hypohidrosis, dental anomalies, alopecia, and immunodeficiency. Boys with NEMO mutations often present with serious infections, but the NEMO mutations are rarely diagnosed early in infancy. Cutaneous features in these patients are poorly elucidated.

X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation