Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.C417Y
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IKBKG

NM_001099857.5:p.C417Y

Associated Papers

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

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

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.

Jain A et al.

The Journal of Clinical Investigation, 2004

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