Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y et al.
The Journal of Clinical Investigation, 2022
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G et al.
Journal of Clinical Immunology, 2017
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Zilberman-Rudenko J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
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.
Fusco F et al.
International Reviews of Immunology, 2015
Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
Ngadjeua F et al.
The Journal of Biological Chemistry, 2013
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Hubeau M et al.
Blood, 2011
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Ma CA et al.
Human Mutation, 2011
Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its DNA-binding domain and subsequent functional suppression.
Wu L et al.
The Journal of Biological Chemistry, 2011
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.
Singh A et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP et al.
The Journal of Allergy and Clinical Immunology, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation.
Cordier F et al.
Journal of Molecular Biology, 2008
Mutations in the zinc finger domain of IKK gamma block the activation of NF-kappa B and the induction of IL-2 in stimulated T lymphocytes.
Shifera AS et al.
Molecular Immunology, 2008
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination.
Souto-Carneiro MM et al.
Journal of Immunology (baltimore, Md. : 1950), 2008
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.
Temmerman ST et al.
Blood, 2006
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O et al.
The Journal of Experimental Medicine, 2006
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
The range of defects associated with nuclear factor kappaB essential modulator.
Uzel G
Current Opinion in Allergy and Clinical Immunology, 2005
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.
Orange JS et al.
Immunological Reviews, 2005
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.
Jain A et al.
The Journal of Clinical Investigation, 2004
Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia.
Dai YS et al.
Journal of the American Academy of Dermatology, 2004
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
Orange JS et al.
The Journal of Allergy and Clinical Immunology, 2004
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
Orange JS et al.
The Journal of Allergy and Clinical Immunology, 2004
The zinc finger mutation C417R of I-kappa B kinase gamma impairs lipopolysaccharide- and TNF-mediated NF-kappa B activation through inhibiting phosphorylation of the I-kappa B kinase beta activation loop.
Yang F et al.
Journal of Immunology (baltimore, Md. : 1950), 2004
Sequential modification of NEMO/IKKgamma by SUMO-1 and ubiquitin mediates NF-kappaB activation by genotoxic stress.
Huang TT et al.
Cell, 2003
A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha.
Tang ED et al.
The Journal of Biological Chemistry, 2003
C4b-binding protein (C4BP) activates B cells through the CD40 receptor.
Brodeur SR et al.
Immunity, 2003
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
Orange JS et al.
The Journal of Clinical Investigation, 2002
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R et al.
Nature Genetics, 2001
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
Zonana J et al.
American Journal of Human Genetics, 2000
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.
Huppmann AR et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0