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Article

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Journal of clinical immunology - 1 Aug 2016

Boztug Heidrun, Hirschmugl Tatjana, Holter Wolfgang, Lakatos Karoly, Kager Leo, Trapin Doris, Pickl Winfried, Förster-Waldl Elisabeth, Boztug Kaan

Abstract excerpt

PURPOSE: NF-κB signaling is critically important for regulation of both innate and adaptive immune responses. While activation of NF-κB has been implicated in malignancies such as leukemia and lymphoma, loss-of-function mutations affecting different NF-κB pathway components have been shown to cause primary immunodeficiency disorders. Recently, haploinsufficiency of NF-κB1 has been described in three families with...

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Share to Epstein-Barr Virus Infections
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunologic Deficiency Syndromes

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Source

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Identifiers

PMID: 27338827
DOI: 10.1007/s10875-016-0306-1
PMCID: PMC4940442

Genes

NFKB1

Variants

Provenance

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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