Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0417-3
Abstract: PurposeAnhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous… read more here.
Keywords: female patients; immunodeficiency; incontinentia pigmenti; nemo mutation ... See more keywords