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combined immunodeficiency

primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity
Class type of: immunodeficiency, primary immunodeficiency disease, primary immunodeficiency due to a defect in adaptive immunity Q5150906

Facts

7 properties
Instance of
rare disease, class of disease[2]
Subclass of
immunodeficiency, primary immunodeficiency disease, primary immunodeficiency due to a defect in adaptive immunity, genetic disease[3][4][5][6]
Genetic association
IL2RG, CD4, TAP1, TAP2, ADA, AK2, ATM, B2M, CD3D, CD3E, CD3G, CD247, CORO1A, CTPS1, IKBKB, IL6R, IL6ST, IL7R, JAK3, LCK, LIG4, MALT1, MAP3K14, CIITA, MSN, PIK3CD, POLD1, PSMB10, PTPRC, RAC2, RAG1, RAG2, RELA, RFX5, RFXANK, RFXAP, RMRP, STIM1, STK4, TNFRSF4, CD70, TRAC, WAS, FOXN1, ZAP70, BCL11B, ERBIN, CARD11, DCLRE1C, LAT, CHD7, NHEJ1, ORAI1, INO80, CARMIL2, MAGT1, GINS1, KNSTRN[10][11][12][13][14][15][16][17][18][19][20][21][22][23]
Health specialty
hematology[9]
ICD-9-CM
279.2[7]
NCI Thesaurus ID
C27871[8]
On focus list of Wikimedia project
WikiProject Medicine
🏷️ Also known as
en Combined immunity deficiency NOS (disorder) en combined immunodeficiencies en combined immunodeficiency en Combined T and B cell immunodeficiency en combined T cell and B cell immunodeficiency en Congenital Combined Immunodeficiency en X-linked combined immunodeficiency es inmunodeficiencia combinada fr déficit immunitaire combiné fr immunodéficience combinée fr immunodéficience combinée T-B fr immunodéficience mixte
🔖 Identifiers · 15
Disease Ontology ID
DOID:0111962
Exact match
www.orpha.net, purl.obolibrary.org, identifiers.org
Human Phenotype Ontology ID
HP:0005387
ICD-10 ID
D81
ICD-10-CM
D81.9, D81, D81.3, D81.7, D81.6, D81.1, D81.8, D81.4, D81.5, D81.2, D81.0
ICD-11 ID (Foundation)
1616506198
ICD-11 ID (MMS)
4A01.1
KEGG ID
H00093
Medical Dictionary for Regulatory Activities ID
10010099
Microsoft Academic ID (discontinued)
2776598021, 2910122807
Mondo ID
MONDO_0015131
OMIM ID
312863
Show all 15 identifiers +3
Orphanet ID
101972
Raras disease ID
D101972
UMLS CUI
C0494261, C5681793

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Summary

combined immunodeficiency is a rare disease[1].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). combined immunodeficiency. Retrieved November 6, 2026, from https://4ort.xyz/entity/combined-immunodeficiency
MLA “combined immunodeficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 6 Nov. 2026, https://4ort.xyz/entity/combined-immunodeficiency.
BibTeX @misc{4ortxyz_combined-immunodeficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{combined immunodeficiency}}, year = {2026}, url = {https://4ort.xyz/entity/combined-immunodeficiency}, note = {Accessed: 2026-11-06}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 16d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Genetic association → IL2RG, CD4, TAP1 +1
    Raras disease ID → D101972
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 5w ago · عُثمان · 2026-10-04 view diff on Wikidata ↗
    Human Phenotype Ontology ID → HP:0005387
    "Created claim: Human Phenotype Ontology ID: HP:0005387, Matched to Combined immunodeficiency (#19251215) in HPO"
  3. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    NCI Thesaurus ID → C27871
    ICD-11 ID (Foundation) → 1616506198
    On focus list of Wikimedia project → WikiProject Medicine
    Health specialty → hematology
    + 17 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39953: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.