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specific granule deficiency 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

specific granule deficiency 1

MONDO:0044207

Also known as:specific granule deficiencyCEBPE specific granule deficiencyspecific granule deficiency caused by mutation in CEBPE

Overview

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.

GeneticsAutosomal recessive · CEBPE (chr 14)

ResearchLimited published research (4 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: Impaired neutrophil bactericidal activity, Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, and Low neutrophil alkaline phosphatase and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	11	Absent neutrophil lactoferrin, Neutrophil nuclear clefts, Impaired neutrophil bactericidal activity

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.

CEBPE encodes CCAAT enhancer binding protein epsilon (281 aa). Transcriptional activator. C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Highest expression in Whole Blood (11.1 TPM) and Spleen (3.1 TPM).

Specific granule deficiency 1 is associated with mutations in the CEBPE gene on chromosome 14.

The CEBPE protein participates in CEBPE gene:RXRA:RARA:atRA, CEBPE gene:RARA:RXRA, and CEBPE gene:EP300:SPI1:PML pathways.

CEBPE is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 always present features.

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 specific granule deficiency 1.

4 publications have been identified in PubMed for specific granule deficiency 1. Research spans Basic Science / Preclinical (75%) and Other (25%).

Recent Publications

Xu J (2025). [PMID: 40347515](https://pubmed.ncbi.nlm.nih.gov/40347515/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Tamaru T (2025). [PMID: 40581342](https://pubmed.ncbi.nlm.nih.gov/40581342/). *Clin Exp Immunol*. [Basic Science / Preclinical]
Dwivedi P (2025). [PMID: 41026272](https://pubmed.ncbi.nlm.nih.gov/41026272/). *J Clin Immunol*. [Other]
Brouwer MAE (2025). [PMID: 41321749](https://pubmed.ncbi.nlm.nih.gov/41321749/). *EJHaem*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245480

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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specific granule deficiency 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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