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primary immunodeficiency disease

immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation
Class type of: immune disorder, immunodeficiency Q3043160

Facts

14 properties
Instance of
designated intractable/rare disease, class of disease[2]
Subclass of
immune disorder, immunodeficiency[3][4]
Part of
immunodeficiency[5]
Different from
HIV/AIDS[14]
Genetic association
AP3B1, XIAP, ATP6AP1, C1R, C1S, C2, C3, C4A, C4B, C5, C8B, CASP8, CD19, CD79B, CD81, LRBA, LYST, CTLA4, DGKE, FCGR3A, FCN3, ICOS, CFI, SP110, IFNAR2, IGHM, IGKC, IGLL1, IKBKG, IL10RA, IL21, IL6R, IL6ST, IRF7, ITK, MASP2, CD46, MSN, NCF2, NFAT5, NFKB1, NFKB2, NFKBIA, BLOC1S6, CFP, PIK3CD, PIK3R1, PRF1, PRKCD, RMRP, SH2D1A, SKIV2L, SMARCAL1, SPI1, STAT1, STAT2, STAT3, STAT6, STX11, STXBP2, TCF3, THBD, CD40, CD27, CD40LG, CD70, TREX1, UNG, IKZF1, BCL11B, BLNK, SPINK5, ERBIN, ZNF341, CARD11, TNFRSF13C, TNFRSF13B, SEC61A1, LRRC8A, UNC13D, TTC37, RNASEH2C, CYBC1, KNSTRN, LSM11[16][17][18][19][20][21][22][23][24][25][26][27][28][29]
Has characteristic
deficiency[8]
Health specialty
immunology[15]
ICD-9-CM
279.3[9]
NCI Thesaurus ID
C3131, C3131, C39725, C3131, C152105, C91500[10][11][12][13]
On focus list of Wikimedia project
WikiProject Medicine
Opposite of
acquired immunodeficiency[6]
P14541
ptHcY
P14914
D101997
Prevalence
+0.00005[7]
🏷️ Also known as
en hypoimmunity en Antibody Deficiency Syndromes en Deficiency Syndrome, Antibody en Deficiency Syndrome, Immunologic en Deficiency Syndrome, Immunological en Deficiency Syndromes, Antibody en Deficiency Syndromes, Immunologic en Deficiency Syndromes, Immunological en immune deficiency disorder en immunodeficiency en Immuno-Deficiency en Immunodeficiency Disorder en immunodeficiency syndrome en Immunodeficiency Syndrome en Immunological Deficiency Syndrome en Immunological Deficiency Syndromes en Immunologic Deficiency Syndrome en Immunologic Deficiency Syndromes en Primary immunodeficiency en primary immunodeficiency disease
🔖 Identifiers · 27
OpenAlex ID
C2779019163
BabelNet ID
03558983n
Bing entity ID
5e48470e-7eb3-357b-0a25-6d891076bbec
Disease Ontology ID
DOID:612
Encyclopedia of China (Third Edition) ID
548649
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/0gzxdg
Google Knowledge Graph ID
/g/11dyjs1tw
Human Phenotype Ontology ID
HP:0002721
ICD-10 ID
D84.9
ICD-10-CM
D84.9
Show all 27 identifiers +15
ICD-11 ID (Foundation)
587326822
ICD-9 ID
279.3
KEGG ID
H01725
MeSH descriptor ID
D000081207
MeSH tree code
C20.673.795, C16.320.798
Medical Dictionary for Regulatory Activities ID
10064859
Mondo ID
MONDO_0021094
NL CR AUT ID
ph358653
OMIM ID
242850
Orphanet ID
101997
SNOMED CT ID
58606001
SVKKL authority ID
0237349-vrozena-imunodeficience
UMLS CUI
C0021051, C0021051, C0021051, C0398686
WikiProjectMed ID
Primary immunodeficiency
WikiSkripta article ID
4131

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Subtypes 8
autoimmune disease, myalgic encephalomyelitis/chronic fatigue syndrome, epidermodysplasia verruciformis, lymphoproliferative disorders, WHIM syndrome, autosomal dominant familial periodic fever, Nezelof syndrome, complement deficiency
Subclass of 2
disease, immune disorder
Has characteristic 1
deficiency
Health specialty 1
immunology
On focus list of Wikimedia project 1
WikiProject Medicine
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Summary

primary immunodeficiency disease is a designated intractable/rare disease[1].

Related Entities

disease immunology

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . 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.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.
  28. [29] ↑ . 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). primary immunodeficiency disease. Retrieved November 4, 2026, from https://4ort.xyz/entity/primary-immunodeficiency-disease
MLA “primary immunodeficiency disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 4 Nov. 2026, https://4ort.xyz/entity/primary-immunodeficiency-disease.
BibTeX @misc{4ortxyz_primary-immunodeficiency-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{primary immunodeficiency disease}}, year = {2026}, url = {https://4ort.xyz/entity/primary-immunodeficiency-disease}, note = {Accessed: 2026-11-04}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): primary immunodeficiency disease — https://4ort.xyz/entity/primary-immunodeficiency-disease (retrieved 2026-11-04)

Canonical URL: https://4ort.xyz/entity/primary-immunodeficiency-disease · Last refreshed:

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. 15d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Genetic association → AP3B1, XIAP, ATP6AP1 +82
    Prevalence → {'amount': '+0.00005'}
    Wikipedia languages → ['ar', 'be', 'ca', 'en', 'eo', 'fi', 'fr', 'ja', 'ko', 'ms', 'nl', 'pl', 'pt', '
    P14914 → D101997
    + 1 other property edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 14w ago · Tunyk · 2026-07-29 view diff on Wikidata ↗
    BabelNet ID → 03558983n
    ICD-10 ID → D84.9
    Bing entity ID → 5e48470e-7eb3-357b-0a25-6d891076bbec
    Medical Dictionary for Regulatory Activities ID → 10064859
    + 7 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-create:2||1 */ NCI Thesaurus ID: C91500"
  3. 16w ago · Tunyk · 2026-07-14 view diff on Wikidata ↗
    Subclass of → immune disorder, immunodeficiency
    "/* wbsetclaim-create:2||1 */ Subclass of: immunodeficiency"
  4. 17w ago · Nyuhn · 2026-07-10 view diff on Wikidata ↗
    P14541 → ptHcY
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/40849|batch #40849]]: ZGBK ID"
  5. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → immune disorder, immunodeficiency
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
  6. 21w ago · Jindřich Rubeš · 2026-06-12 view diff on Wikidata ↗
    SVKKL authority ID → 0237349-vrozena-imunodeficience
    Has characteristic → deficiency
    Instance of → —
    On focus list of Wikimedia project → WikiProject Medicine
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbcreateclaim-create:1| */ SVKKL authority ID: 0237349-vrozena-imunodeficience, [[:toollabs:quickstatements/#/batch/259494|batch #259494]]"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.