CEBPE and Specific Granule Deficiency: Association Evidence

Gene-Disorder Association · Article

Gene

CEBPE

CCAAT Enhancer Binding Protein Epsilon

Disorder

First reported 2001

Supporting publications 4

Key publication · gene–disorder Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.Blood · 2001

Key publication · disorder Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy.The American journal of pathology · 1980

Manually curated

Association Review

In brief

The association between CEBPE (CCAAT Enhancer Binding Protein Epsilon) and Specific Granule Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3

Clinical variants 186

Symptoms 0

Compounds 0

Trials 0

Publications 4