Associated Papers
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G et al.
Journal of Clinical Immunology, 2017
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
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
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
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.
Zhang SY et al.
Immunological Reviews, 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
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
Niehues T et al.
The Journal of Allergy and Clinical Immunology, 2004
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