TLR associated IKBKG variants [cytosol]

Stable Identifier
R-HSA-5262931
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
18851874 Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

Monaco-Shawver, L, May, MJ, Orange, JS, Madge, LA, Solt, LA, Hanson, EP, Banerjee, PP

J. Allergy Clin. Immunol. 2008
21309033 Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

Wu, L, Zhao, Y, Jain, A, Hornung, RL, Temmerman, S, Ma, CA, Wara, D, Wang, HY

Hum. Mutat. 2011
14764716 The zinc finger mutation C417R of I-kappa B kinase gamma impairs lipopolysaccharide- and TNF-mediated NF-kappa B activation through inhibiting phosphorylation of the I-kappa B kinase beta activation loop

Yang, F, Guan, K, Wang, CY, Yamashita, J, Wang, HL, Tang, E

J. Immunol. 2004
11242109 X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

Belani, K, Wood, P, Kalhoff, H, Blanche, S, Conley, ME, Courtois, G, Headon, DJ, Abinun, M, Durandy, A, Bodemer, C, Rabia, SH, Israël, A, Geissmann, F, Döffinger, R, Kenwrick, S, Casanova, JL, Kumararatne, DS, Le Deist, F, Smahi, A, Dupuis-Girod, S, Reimund, E, Holland, SM, Bessia, C, Fischer, A, Overbeek, PA, Munnich, A, Shapiro, R, Feinberg, J

Nat. Genet. 2001
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Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
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