Article

An Exclusive NEMO B Mutation Leads to NF-κB-linked Recurrent Pneumonia by Disrupting the NEMO/IKK Complex

2022-07-14

Abstract excerpt

<title>Abstract</title> <p>Purpose A number of NEMO mutations in the shared sequences of NEMO isoform A and B have been associated with NF-κB-linked diseases. Here, we first report an exclusive NEMO B mutation as the genetic etiology of a male case with recurrent bacterial pneumonia and explore the underlying mechanism. Methods The genomic protein-coding regions of genes were analyzed using the whole exome sequ...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c31524c7-4b0f-530c-b99c-75648c0a7541
DOI: 10.21203/rs.3.rs-1764128/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An Exclusive NEMO B Mutation Leads to NF-κB-linked Recurrent Pneumonia by Disrupting the NEMO/IKK ComplexDOI 10.21203/rs.3.rs-1764128/v1Read

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Semantic proximity Read

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Semantic proximity Read

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.Semantic proximity Read

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Semantic proximity Read

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

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiencySemantic proximity Read

NFKB pathway mutations in the Iranian cohortSemantic proximity Read

A de novo IKZF4 variant impairs marginal zone B cells and regulatory T cells by downregulating the NF-κB pathwaySemantic proximity Read

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.Semantic proximity Read

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.Semantic proximity Read

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.Semantic proximity Read