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Article

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.

The Journal of allergy and clinical immunology - 1 Apr 2004

Orange Jordan S, Jain Ashish, Ballas Zuhair K, Schneider Lynda C, Geha Raif S, Bonilla Francisco A

Abstract excerpt

BACKGROUND: An increasing number of rare genetic defects are associated with immunodeficiency and impaired ability to activate gene transcription through nuclear factor (NF) kappaB. Hypomorphic mutations in the NFkappaB essential modulator (NEMO) impair NFkappaB function and are linked to both immunodeficiency and ectodermal dysplasia (ED), as well as susceptibility to atypical mycobacterial infections....

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Identifiers

PMID: 15100680
DOI: 10.1016/j.jaci.2004.01.762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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