Reactome | IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)

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IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Show undefined attributes

authored	[InstanceEdit:5545427] Shamovsky, V, 2014-05-21
created	[InstanceEdit:5603028] Shamovsky, Veronica, 2014-06-26
crossReference	[DatabaseIdentifier:12819573] BioModels Database:BIOMD0000000243 [DatabaseIdentifier:12021025] Mondo:0003778 [DatabaseIdentifier:12819431] BioModels Database:BIOMD0000000883
dbId	5603027
disease	[Disease:5228860] primary immunodeficiency disease
displayName	IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
edited	[InstanceEdit:5673719] Shamovsky, Veronica, 2015-02-09
eventOf	[Pathway:R-HSA-5602358] Diseases associated with the TLR signaling cascade - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5262921] Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR) - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2022-12-07
literatureReference	[LiteratureReference:5262892] Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity [LiteratureReference:5262960] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling [LiteratureReference:5607891] Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
maxDepth	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
normalPathway	[Pathway:R-HSA-445989] TAK1-dependent IKK and NF-kappa-B activation
releaseDate	2015-03-19
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5621924] D'Eustachio, Peter, 2014-09-06 [InstanceEdit:5675062] McDonald, Douglas R, 2015-02-15
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5603027
summation	[Summation:5607899] Many signaling pathways rely on the activation of nuclear fa...
updateTrackers	[UpdateTracker:9846916] Update Tracker - [Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) - v83:[updateContainedRLE] [UpdateTracker:9780103] Update Tracker - [Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) - v64:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9846916] Update Tracker - [Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) - v83:[updateContainedRLE] [UpdateTracker:9780103] Update Tracker - [Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) - v64:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5602358] Diseases associated with the TLR signaling cascade

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