Cyclic neutropenia caused by defects in ELA2 is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.
Alternative names
ELA2 related neutropenia
Cyclic haematopoiesis
Classification
- Defects of phagocyte function
- Severe congenital and cyclic neutropenias
- Cyclic neutropenia
- Severe congenital and cyclic neutropenias
Inheritance
Autosomal dominant
Cross references
Phenotypically related immunodeficiencies
IDR factfile for Severe congenital neutropenias, including Kostmann syndrome
Incidence
1: 1,000,000