TLR associated IKBKG variants [cytosol]

Stable Identifier
Set [DefinedSet]
Homo sapiens
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
21309033 Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

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

Hum. Mutat. 2011
18851874 Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

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

J. Allergy Clin. Immunol. 2008
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, Yamashita, J, Tang, E, Wang, HL, Guan, K, Wang, CY

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

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

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