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Article

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

The Journal of allergy and clinical immunology - 1 Dec 2008

Hanson Eric P, Monaco-Shawver Linda, Solt Laura A, Madge Lisa A, Banerjee Pinaki P, May Michael J, Orange Jordan S

Abstract excerpt

BACKGROUND: Human hypomorphic nuclear factor-kappaB 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18851874
DOI: 10.1016/j.jaci.2008.08.018
PMCID: PMC2710968

Genes

TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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