The various mutations are responsible for the untimely initiation of apoptosis in myelocytes, usually at the promyelocyte stage, leading to their premature destruction or maturation arrest in the bone marrow. The ineffective production of neutrophils leads to a decrease in the absolute neutrophil count and a subsequent increased susceptibility to infections. There may be, in addition, other underlying molecular/genetic changes producing DNA mutations and genome instability, which contribute to initiation and progression of this disease.
Severe congenital neutropenia
Autoimmune neutropenia
Bare lymphocyte syndrome
Diffuse infiltrative lymphocytosis syndrome
Adult-onset immunodeficiency syndrome
Refractory cytopenia of childhood
Leukocyte adhesion deficiency
Myelodysplastic syndrome