Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J et al.
The Journal of Experimental Medicine, 2024
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y et al.
The Journal of Clinical Investigation, 2022
Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.
Kohn LL et al.
Pediatric Dermatology, 2022
Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model.
Sharma R et al.
Nature Communications, 2021
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.
Bret Puvilland C et al.
Journal of Clinical Immunology, 2021
NEMO Links Nuclear Factor-κB to Human Diseases.
Maubach G et al.
Trends in Molecular Medicine, 2017
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi H 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
Inhibition of Canonical NF-κB Signaling by a Small Molecule Targeting NEMO-Ubiquitin Interaction.
Vincendeau M et al.
Scientific Reports, 2016
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
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Ma CA et al.
Human Mutation, 2011
The zinc finger domain of IKKγ (NEMO) protein in health and disease.
Shifera AS
Journal of Cellular and Molecular Medicine, 2010
Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome.
Cheng LE et al.
Clinical Immunology (orlando, Fla.), 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
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
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
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
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