Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO …
JL Mooster, C Cancrini, A Simonetti, P Rossi… - Journal of allergy and …, 2010 - Elsevier
BACKGROUND: Nuclear factor-κB (NF-κB) is a key transcription factor that regulates both
innate and adaptive immunity as well as ectodermal development. Mutations in the coding
region of the IκB kinase γ/NF-κB essential modifier (NEMO) gene cause X-linked ectodermal
dysplasia with immunodeficiency. OBJECTIVE: To determine the genetic cause of recurrent
sinopulmonary infections and dysgammaglobulinemia in a patient with a normal NEMO
coding sequence and his affected brother. METHODS: TNF-α and IFN-α production in …
innate and adaptive immunity as well as ectodermal development. Mutations in the coding
region of the IκB kinase γ/NF-κB essential modifier (NEMO) gene cause X-linked ectodermal
dysplasia with immunodeficiency. OBJECTIVE: To determine the genetic cause of recurrent
sinopulmonary infections and dysgammaglobulinemia in a patient with a normal NEMO
coding sequence and his affected brother. METHODS: TNF-α and IFN-α production in …