Adverse Occurrence type:
Alerting signals, symptoms, evidence of occurrence:
A case of SCN in all 5 children conceived using the same donor sperm. All children were found to have recurrent fevers, severe neutropenia, and evidence suggesting bacterial infections, leading to blood testing and the subsequent diagnosis of SCN during infancy.
Demonstration of imputability or root cause:
None of the mothers had a mutation in ELA2, but all 5 affected children had the same mutation. Linkage mapping analysis confirmed that all affected children had the same paternal allele on chromosome 19, which contains ELA2.