Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.

Considerable progress has been made in recent years in understanding of the genetic basis for congenital neutropenia syndromes. With the advent of high-throughput genomic analyzing technologies, the underlying genetic causes of other congenital neutropenia syndromes are expected to be resolved in the near future. This knowledge will provide the foundation for genotype-phenotype correlations for infection susceptibility, response to therapy, and risk of malignant transformation, enabling optimal care for individual patients depending on their molecular pathophysiology. It is hoped that these investigations will enable the development of tailored molecular therapies to specifically correct the aberrant signaling cascades.