Specific Granule Deficiency

About the Disease
Specific Granule Deficiency 1, also known as specific granule deficiency, is related to specific granule deficiency 2 and neutrophilia, hereditary. An important gene associated with Specific Granule Deficiency 1 is CEBPE (CCAAT Enhancer Binding Protein Epsilon), and among its related pathways/superpathways is RNA Polymerase I Promoter Opening. Affiliated tissues include neutrophil, bone marrow and myeloid, and related phenotypes are recurrent bacterial infections and hyposegmentation of neutrophil nuclei

Common Targets
CEBPE

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