coronin-1A deficiency

severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs

Class type of: severe combined immunodeficiency, T+ B+ severe combined immunodeficiency Q18553597

Facts

7 properties

Instance of: rare disease, class of disease^[4]
Subclass of: severe combined immunodeficiency, T+ B+ severe combined immunodeficiency
Age of onset: childhood onset, infantile onset, neonatal onset^[7]^[8]^[9]
Genetic association: CORO1A^[6]
Has phenotype: Recurrent otitis media, lymphopenia, primary immunodeficiency disease, Infantile onset, attention deficit hyperactivity disorder, Recurrent oral thrush^[11]^[12]^[13]^[14]^[15]^[16]
On focus list of Wikimedia project: WikiProject Medicine^[10]
Prevalence: +0.000001^[5]

🏷️ Also known as

en coronin-1A deficiency en IMD8 en IMMUNODEFICIENCY 8 en IMMUNODEFICIENCY 8; IMD8 en Immunodeficiency type 8 en SCID due to CORO1A deficiency en SCID due to coronin-1A deficiency en Severe combined immunodeficiency due to coronin-1A deficiency fr déficit immunitaire combiné sévère par déficit en coronine-1A

🔖 Identifiers · 8

Disease Ontology ID: DOID:0060019
Exact match: purl.obolibrary.org, identifiers.org, www.orpha.net
ICD-10-CM: D81.2
Mondo ID: MONDO_0014168
OMIM ID: 615401
Orphanet ID: 228003
Raras disease ID: D228003
UMLS CUI: C3809383

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Summary

coronin-1A deficiency is a rare disease^[1]. It is a type of severe combined immunodeficiency^[2] and T+ B+ severe combined immunodeficiency^[3].

References

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

Direct Wikidata claims

[4] ↑ coronin-1A deficiency — instance of (P31): class of disease. wikidata.org.
[2] ↑ coronin-1A deficiency — subclass of (P279): severe combined immunodeficiency. Disease Ontology. Retrieved 2020-11-25. wikidata.org.
[3] ↑ coronin-1A deficiency — subclass of (P279): T+ B+ severe combined immunodeficiency. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ coronin-1A deficiency — prevalence (P1193): 0.000001. Retrieved 2026-10-23. wikidata.org.
[6] ↑ coronin-1A deficiency — genetic association (P2293): CORO1A. UniProt. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[7] ↑ coronin-1A deficiency — age of onset (P2841): childhood onset. Retrieved 2026-10-23. wikidata.org.
[8] ↑ coronin-1A deficiency — age of onset (P2841): infantile onset. Retrieved 2026-10-23. wikidata.org.
[9] ↑ coronin-1A deficiency — age of onset (P2841): neonatal onset. Retrieved 2026-10-23. wikidata.org.
[10] ↑ coronin-1A deficiency — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[11] ↑ coronin-1A deficiency — has phenotype (P6532): Recurrent otitis media. Retrieved 2026-10-23. wikidata.org.
[12] ↑ coronin-1A deficiency — has phenotype (P6532): lymphopenia. Retrieved 2026-10-23. wikidata.org.
[13] ↑ coronin-1A deficiency — has phenotype (P6532): primary immunodeficiency disease. Retrieved 2026-10-23. wikidata.org.
[14] ↑ coronin-1A deficiency — has phenotype (P6532): Infantile onset. Retrieved 2026-10-23. wikidata.org.
[15] ↑ coronin-1A deficiency — has phenotype (P6532): attention deficit hyperactivity disorder. Retrieved 2026-10-23. wikidata.org.
[16] ↑ coronin-1A deficiency — has phenotype (P6532): Recurrent oral thrush. Retrieved 2026-10-23. wikidata.org.

Class ancestry

[1] ↑ coronin-1A deficiency is an instance of rare disease (Q929833) [P31, primary]. 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). coronin-1A deficiency. Retrieved October 23, 2026, from https://4ort.xyz/entity/coronin-1a-deficiency

MLA

“coronin-1A deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/coronin-1a-deficiency.

BibTeX

@misc{4ortxyz_coronin-1a-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{coronin-1A deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/coronin-1a-deficiency}, note = {Accessed: 2026-10-23}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): coronin-1A deficiency — https://4ort.xyz/entity/coronin-1a-deficiency (retrieved 2026-10-23)

Canonical URL: https://4ort.xyz/entity/coronin-1a-deficiency · Last refreshed: October 23, 2026

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.

18d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗

Raras disease ID → D228003

Prevalence → 0.000001

Age of onset → childhood onset, infantile onset, neonatal onset

Has phenotype → Recurrent otitis media, lymphopenia, primary immunodeficiency disease +1

"Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo ID → MONDO_0014168

UMLS CUI → C3809383

Disease Ontology ID → DOID:0060019

Genetic association → CORO1A

+ 8 other properties edited (see Wikidata diff for full list)

"Changed the item: QuickStatements 3.0 batch #39953: deprecate redundant disease superclasses (2)"

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