specific granule deficiency 1
Findings
No curated finding names specific granule deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.
Definition from the Mondo Disease Ontology (MONDO:0044207), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent neutrophil specific granulesHPOHP:0012551
- 2 of 2 reported patients
- Hyposegmentation of neutrophil nucleiHPOHP:0011447
- 1 of 1 reported patient
- Impaired neutrophil bactericidal activityHPOHP:0011993
- 11 of 11 reported patients
- Impaired neutrophil chemotaxisHPOHP:0040238
- 1 of 1 reported patient
- Low neutrophil alkaline phosphataseHPOHP:0041044
- 1 of 1 reported patient
- Recurrent bacterial infectionsHPOHP:0002718
- 11 of 11 reported patients
- Recurrent otitis media
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CEBPEHGNC:1836
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: specific granule deficiency 1
- Also called
- CEBPE specific granule deficiencyspecific granule deficiency caused by mutation in CEBPE