specific granule deficiency

Findings

No curated finding names specific granule deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Where it sits

A kind of

• defective phagocytic cell engulfment
• functional neutrophil defect
• hereditary disease

Narrower terms (2)

• specific granule deficiency 1
• specific granule deficiency 2

Resolves to: specific granule deficiency

Also called

neutrophil-specific granule deficiencyrecurrent infection due to specific granule deficiency