severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
type: Thing
description: severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has material basis in mutation in the RAG1 and RAG2 genes on chromosome 11p12
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: severe combined immunodeficiency
additional property: PropertyValue
  property ID: P279
  value: T-B- severe combined immunodeficiency
additional property: PropertyValue
  property ID: P279
  value: autosomal recessive disease
additional property: PropertyValue
  property ID: P492
  value: 601457
additional property: PropertyValue
  property ID: P699
  value: DOID:0090013
additional property: PropertyValue
  property ID: P1550
  value: 331206
additional property: PropertyValue
  property ID: P2293
  value: RAG1
additional property: PropertyValue
  property ID: P2293
  value: RAG2
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0090013
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0090013
additional property: PropertyValue
  property ID: P2892
  value: C1832322
additional property: PropertyValue
  property ID: P2892
  value: C5679852
additional property: PropertyValue
  property ID: P4229
  value: D81.1
additional property: PropertyValue
  property ID: P4317
  value: 10339
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0011086
additional property: PropertyValue
  property ID: P11430
  value: DI-01019
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: 0
  tier: established
claims:
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q1334408
    source count: 1
    confidence: 0.2
    value label: severe combined immunodeficiency
  P279:
    value: Q55787467
    source count: 1
    confidence: 0.2
    value label: T-B- severe combined immunodeficiency
  P279:
    value: Q10267817
    source count: 1
    confidence: 0.2
    value label: autosomal recessive disease
  P492:
    value: 601457
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0090013
    source count: 1
    confidence: 0.2
  P1550:
    value: 331206
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18031022
    source count: 2
    confidence: 0.4
    value label: RAG1
  P2293:
    value: Q18031023
    source count: 2
    confidence: 0.4
    value label: RAG2
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0090013
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0090013
    source count: 1
    confidence: 0.2
  P2892:
    value: C1832322
    source count: 1
    confidence: 0.2
  P2892:
    value: C5679852
    source count: 1
    confidence: 0.2
  P4229:
    value: D81.1
    source count: 2
    confidence: 0.4
  P4317:
    value: 10339
    source count: 0
    confidence: 0.0
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0011086
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-01019
    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: 2020-11-30
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: UMLS 2023
  stated in qid: Q118645236
  retrieved: 2023-06-16
meta:
  wikidata id: Q30990082
  domain: class_of_disease
  level: standard
  html url: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive
  markdown url: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive.md
  facts url summary: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive/facts.json
  facts url standard: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive/facts.json
  facts url full: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-02T08:23:19.204134Z
  entity updated at: 2026-05-03T22:54:58.348740+00:00Z
  entity created at: 2026-05-03T14:59:02.904954+00:00Z