Reactome | IkBA variant leads to EDA-ID

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IkBA variant leads to EDA-ID 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:12819459] BioModels Database:BIOMD0000000407 [DatabaseIdentifier:12819431] BioModels Database:BIOMD0000000883
dbId	5603029
disease	[Disease:5228860] primary immunodeficiency disease
displayName	IkBA variant leads to EDA-ID
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	[Reaction:R-HSA-9630921] NFKBIA variant binds NFkB complex - Homo sapiens [FailedReaction:R-HSA-5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2022-06-09
literatureReference	[LiteratureReference:5228879] A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy [LiteratureReference:5228832] A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
maxDepth	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	IkBA variant leads to EDA-ID
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-5603029
summation	[Summation:5608050] The nuclear factor kappa B (NFkB) family of transcription fa...
updateTrackers	[UpdateTracker:9774811] Update Tracker - [Pathway:5603029] IkBA variant leads to EDA-ID - v81:[updateContainedRLE] [UpdateTracker:9778440] Update Tracker - [Pathway:5603029] IkBA variant leads to EDA-ID - v68:[addHasEvent, modifyText, updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9774811] Update Tracker - [Pathway:5603029] IkBA variant leads to EDA-ID - v81:[updateContainedRLE] [UpdateTracker:9778440] Update Tracker - [Pathway:5603029] IkBA variant leads to EDA-ID - v68:[addHasEvent, modifyText, updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5602358] Diseases associated with the TLR signaling cascade