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severe combined immunodeficiency due to CORO1A deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe combined immunodeficiency due to CORO1A deficiency

MONDO:0014168

Also known as:SCID due to CORO1A deficiencySCID due to coronin-1A deficiencycoronin-1A deficiency

Overview

GeneticsAutosomal recessive · CORO1A (chr 16)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine, Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antibody response to tetanus vaccine, and Gastroesophageal reflux and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CORO1A encodes coronin 1A (461 aa). May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. Highest expression in Cells EBV-transformed lymphocytes (882.3 TPM) and Whole Blood (729.5 TPM).

Severe combined immunodeficiency due to CORO1A deficiency is caused by mutations in the CORO1A gene on chromosome 16.

CORO1A is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CORO1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for severe combined immunodeficiency due to CORO1A deficiency.

3 publications have been identified in PubMed for severe combined immunodeficiency due to CORO1A deficiency. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

Ural Z (2025). [PMID: 40464874](https://pubmed.ncbi.nlm.nih.gov/40464874/). *CEN case reports*. [Case Report / Case Series]
Lam TT (2025). [PMID: 40557146](https://pubmed.ncbi.nlm.nih.gov/40557146/). *Frontiers in immunology*. [Basic Science / Preclinical]
Shaverskyi A (2025). [PMID: 40158258](https://pubmed.ncbi.nlm.nih.gov/40158258/). *Redox biology*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615401

Orphanet

European rare disease database

Orphanet:228003

GARD

Genetic and Rare Diseases Info Center

GARD:17144

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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severe combined immunodeficiency due to CORO1A deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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