A majority of patients with<unk>  have been found to have mutations in the CEBPE (CCAAT/enhancer-binding protein epsilon) gene, a transcription factor primarily active in myeloid cells. Almost all patients have been found to be homozygous for the mutation, suggesting the disease is autosomal recessive. One patient, heterozygous for the mutation, was found to be deficient in GFI1, a related gene.
Neutrophil-specific granule deficiency
Leukocyte adhesion molecule deficiency
Leukocyte adhesion deficiency
Humoral immune deficiency
Terminal complement pathway deficiency
IgG deficiency
Complement deficiency
T cell deficiency