Associated Papers
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S et al.
Journal of Clinical Immunology, 2020
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G 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
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 is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.
Audry M et al.
The Journal of Allergy and Clinical Immunology, 2011
A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.
Devora GA et al.
Journal of Clinical Immunology, 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
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
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A et al.
American Journal of Human Genetics, 2006
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
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