Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
EP Hanson, L Monaco-Shawver, LA Solt… - Journal of Allergy and …, 2008 - Elsevier
BACKGROUND: Human hypomorphic nuclear factor-κB essential modulator (NEMO)
mutations cause diverse clinical and immunologic phenotypes, but understanding of their
scope and mechanistic links to immune function and genotype is incomplete. OBJECTIVE:
We created and analyzed a database of hypomorphic NEMO mutations to determine the
spectrum of phenotypes and their associated genotypes and sought to establish a
standardized NEMO reconstitution system to obtain mechanistic insights. METHODS …
mutations cause diverse clinical and immunologic phenotypes, but understanding of their
scope and mechanistic links to immune function and genotype is incomplete. OBJECTIVE:
We created and analyzed a database of hypomorphic NEMO mutations to determine the
spectrum of phenotypes and their associated genotypes and sought to establish a
standardized NEMO reconstitution system to obtain mechanistic insights. METHODS …
