caspase-8 deficiency
type: Thing
description: autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: autoimmune lymphoproliferative syndrome
additional property: PropertyValue
  property ID: P279
  value: autosomal recessive disease
additional property: PropertyValue
  property ID: P279
  value: Type 2 Autoimmune Lymphoproliferative Syndrome
additional property: PropertyValue
  property ID: P492
  value: 607271
additional property: PropertyValue
  property ID: P699
  value: DOID:0110116
additional property: PropertyValue
  property ID: P1550
  value: 275517
additional property: PropertyValue
  property ID: P2293
  value: CASP8
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0110116
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0110116
additional property: PropertyValue
  property ID: P2892
  value: C1846545
additional property: PropertyValue
  property ID: P4229
  value: D47.9
additional property: PropertyValue
  property ID: P4317
  value: 9796
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0011804
additional property: PropertyValue
  property ID: P7807
  value: 867549613
additional property: PropertyValue
  property ID: P11430
  value: DI-01326
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 7
      unique citations norm: 0.003
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 7
  monthly pageviews: 0
  yearly pageviews: 17
  pageview trend:
    m: 2026-06
    v: 15
  pageview trend:
    m: 2026-05
    v: 2
  tier: established
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q1151300
    source count: 1
    confidence: 0.2
    value label: autoimmune lymphoproliferative syndrome
  P279:
    value: Q10267817
    source count: 1
    confidence: 0.2
    value label: autosomal recessive disease
  P279:
    value: Q55015272
    source count: 0
    confidence: 0.0
    value label: Type 2 Autoimmune Lymphoproliferative Syndrome
  P492:
    value: 607271
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0110116
    source count: 1
    confidence: 0.2
  P1550:
    value: 275517
    source count: 1
    confidence: 0.2
  P2293:
    value: Q14911965
    source count: 4
    confidence: 0.8
    value label: CASP8
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0110116
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0110116
    source count: 1
    confidence: 0.2
  P2892:
    value: C1846545
    source count: 1
    confidence: 0.2
  P4229:
    value: D47.9
    source count: 2
    confidence: 0.4
  P4317:
    value: 9796
    source count: 0
    confidence: 0.0
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0011804
    source count: 0
    confidence: 0.0
  P7807:
    value: 867549613
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-01326
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2019-05-15
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
  stated in qid: Q28204372
meta:
  wikidata id: Q24975366
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/caspase-8-deficiency
  markdown url: https://4ort.xyz/entity/caspase-8-deficiency.md
  facts url summary: https://4ort.xyz/entity/caspase-8-deficiency/facts.json
  facts url standard: https://4ort.xyz/entity/caspase-8-deficiency/facts.json
  facts url full: https://4ort.xyz/entity/caspase-8-deficiency/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-24T00:37:09.919872Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:12:56.268910+00:00Z