UMMS Affiliation

Department of Pediatrics

Faculty Advisor

Newburger, Peter E.


Boxer, Laurence A.; Dale, David C.; Bolyard, Audrey Anna; Aprikyan, Andrew A.G.



Document Type


Medical Subject Headings

Neutropenia; Leukocyte Elastase; Neutrophils; Phenotype; Genetic Engineering; Case Reports


Life Sciences | Medicine and Health Sciences | Pediatrics


Background: Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are disorders of neutrophil production that differ in severity and their responsiveness to treatment. Most cases of CN and many of SCN are due to mutations of the ELA2 gene.

Objectives: To determine the role of modifying genes in the ELA2 mutation-associated neutropenia phenotype.

Methods: Case Report

Results: We report on the progeny of a common donor used by an in vitro fertilization program whose affected offspring all had the same S97L ELA2 mutation. The child presented was diagnosed as CN; seven other offspring were diagnosed as SCN. Conclusion: This case suggests a role for modifying genes in determining the clinical phenotype of neutropenia due to ELA2 gene mutation. It also suggests that CN and SCN represent phenotypes on a disease spectrum.


ELA2 mutation