DISORDERS RELATED TO NUCLEAR FACTOR KAPPA B ESSENTIAL MODULATOR (NEMO) IMMUNODEFICIENCY IN CHILDREN: A REVIEW

Abstract

IKBKG is a gene that encodes for a protein which regulates nuclear factor kappa-B (NF-KB). This NF-KB not only plays an integral role in body’s inflammatory and immune responses but also affects ectodermal development. The protein complex NF-KB is present in the cytoplasm in an inactive form and requires nuclear factor kappa-B essential modulator (NEMO) for its activation. Impaired expression of NEMO, therefore, results in immunodeficiency. This article throws light on the three major disorders that occur in children due to mutations in NEMO. The disorders include ectodermal dysplasia, incontinentia pigmenti and osteopetrosis. Ectodermal dysplasia involves dystrophies of the ectodermal structures causing hypohidrosis, hypotrichosis etc. Incontinentia pigmenti mainly affects the skin but teeth, bones, brain and eyes are also not left unaffected in certain cases. Osteopetrosis targets the bones.