Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.
Belot A et al.
Acr Open Rheumatology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy.
Rösler B et al.
Clinical and Experimental Immunology, 2021
NeMO mutations: a rare cause of monogenic Behçet-like disease.
Baldini L et al.
Rheumatology (oxford, England), 2021
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
Shiraki M et al.
Children (basel, Switzerland), 2021
Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.
Su W et al.
World Journal of Gastroenterology, 2021
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E et al.
The Journal of Allergy and Clinical Immunology, 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
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
Association of IL-4 gene VNTR variant with deep venous thrombosis in Behçet's disease and its effect on ocular involvement.
Inanir A et al.
Molecular Vision, 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
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients.
Takada H et al.
Clinical Genetics, 2010
A cytoplasmic ATM-TRAF6-cIAP1 module links nuclear DNA damage signaling to ubiquitin-mediated NF-κB activation.
Hinz M et al.
Molecular Cell, 2010
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
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