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eosinophil peroxidase deficiency (EPXD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

eosinophil peroxidase deficiency

MONDO:0043364

Also known as:EPXDPresentey anomalyeosinophil peroxidase deficiency, Partial

Overview

A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.

GeneticsAutosomal recessive · EPX (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Eosinophil nuclear hypersegmentation.

Explore clinical features

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.

EPX encodes eosinophil peroxidase (715 aa). Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Highest expression in Brain Cerebellum (2.5 TPM) and Brain Cerebellar Hemisphere (2.5 TPM).

Eosinophil peroxidase deficiency is associated with mutations in the EPX gene on chromosome 17.

EPX is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature.

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 eosinophil peroxidase deficiency.

3 publications have been identified in PubMed for eosinophil peroxidase deficiency. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Xie L (2025). [PMID: 39349246](https://pubmed.ncbi.nlm.nih.gov/39349246/). *Cell Mol Gastroenterol Hepatol*. [Review / Meta-Analysis]
Fettrelet T (2024). [PMID: 39682685](https://pubmed.ncbi.nlm.nih.gov/39682685/). *Cells*. [Basic Science / Preclinical]
Zhu C (2024). [PMID: 39214980](https://pubmed.ncbi.nlm.nih.gov/39214980/). *Cell Death Dis*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:261500

GARD

Genetic and Rare Diseases Info Center

GARD:12361

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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eosinophil peroxidase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team