Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.

doi:10.1038/ncomms6360

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.

Nature communications - 19 Nov 2014

Willmann Katharina L, Klaver Stefanie, Doğu Figen, Santos-Valente Elisangela, Garncarz Wojciech, Bilic Ivan, Mace Emily, Salzer Elisabeth, Conde Cecilia Domínguez, Sic Heiko, Májek Peter, Banerjee Pinaki P, Vladimer Gregory I, Haskoloğlu Sule, Bolkent Musa Gökalp, Küpesiz Alphan, Condino-Neto Antonio, Colinge Jacques, Superti-Furga Giulio, Pickl Winfried F, van Zelm Menno C, Eibel Hermann, Orange Jordan S, Ikincioğulları Aydan, Boztuğ Kaan

Abstract excerpt

Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF-κB-inducing kinase). Loss of kinase activity of mutant NIK, predicted by in silico analysis and confirmed by functional assays, leads...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bacterial Infections

Share to Cryptosporidiosis

Share to Immunoglobulin Class Switching

Share to Lymphocyte Count

Share to Lymphopenia

Share to T-Lymphocytes, Helper-Inducer

Share to Virus Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 25406581
DOI: 10.1038/ncomms6360
PMCID: PMC4263125

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.PMID 25406581Read ↗

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.Semantic proximity Read ↗

Targeting NF-κB-Inducing Kinase (NIK) in Immunity, Inflammation, and CancerSemantic proximity Read ↗

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.Semantic proximity Read ↗

Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.Semantic proximity Read ↗

Deficiency of innate and acquired immunity caused by an IKBKB mutation.Semantic proximity Read ↗

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.Semantic proximity Read ↗

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.Semantic proximity Read ↗

Loss of human ICOSL results in combined immunodeficiencySemantic proximity Read ↗

Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.Semantic proximity Read ↗

Immunodeficiency due to a novel variant in PIK3CD: a case report.Semantic proximity Read ↗

Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease.Semantic proximity Read ↗

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.