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IKBKB deficiency causes SCID Show undefined attributes

authored

[InstanceEdit:5545427] Shamovsky, V, 2014年05月21日

created [InstanceEdit:5602721] Shamovsky, Veronica, 2014年06月24日

crossReference

dbId 5602636

disease

[Disease:5433062] severe combined immunodeficiency

displayName IKBKB deficiency causes SCID

edited

[InstanceEdit:5673719] Shamovsky, Veronica, 2015年02月09日

eventOf

[Pathway:R-HSA-5602358] Diseases associated with the TLR signaling cascade - Homo sapiens

hasDiagram true

hasEHLD false

hasEvent

[FailedReaction:R-HSA-5228840] Defective IKBKB (IKK2) does not form a complex with IKBKA and IKBKG - Homo sapiens

isInDisease true

isInferred false

lastUpdatedDate 2018年12月13日

literatureReference

[LiteratureReference:5228878] Deficiency of innate and acquired immunity caused by an IKBKB mutation

maxDepth 2

modified [InstanceEdit:12757879] Weiser, Joel, 2025年08月05日

name

IKBKB deficiency causes SCID

normalPathway [Pathway:R-HSA-445989] TAK1-dependent IKK and NF-kappa-B activation

releaseDate 2015年03月19日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

schemaClass Pathway

species

[Species:48887] Homo sapiens

stId R-HSA-5602636

summation

[Summation:5602674] Four patients with early-onset, life-threatening microbial i...

updateTrackers

[UpdateTracker:9778779] Update Tracker - [Pathway:5602636] IKBKB deficiency causes SCID - v67:[updateContainedRLE]

Referrals

(updatedInstance)

[UpdateTracker:9778779] Update Tracker - [Pathway:5602636] IKBKB deficiency causes SCID - v67:[updateContainedRLE]

(hasEvent)

[Pathway:R-HSA-5602358] Diseases associated with the TLR signaling cascade

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