The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutation
JS Orange, A Jain, ZK Ballas, LC Schneider… - Journal of allergy and …, 2004 - Elsevier
BACKGROUND: An increasing number of rare genetic defects are associated with
immunodeficiency and impaired ability to activate gene transcription through nuclear factor
(NF) κB. Hypomorphic mutations in the NFκB essential modulator (NEMO) impair NFκB
function and are linked to both immunodeficiency and ectodermal dysplasia (ED), as well as
susceptibility to atypical mycobacterial infections. OBJECTIVE: We sought to investigate the
clinical and immunologic natural history of patients with NEMO mutation with …
immunodeficiency and impaired ability to activate gene transcription through nuclear factor
(NF) κB. Hypomorphic mutations in the NFκB essential modulator (NEMO) impair NFκB
function and are linked to both immunodeficiency and ectodermal dysplasia (ED), as well as
susceptibility to atypical mycobacterial infections. OBJECTIVE: We sought to investigate the
clinical and immunologic natural history of patients with NEMO mutation with …