Chronic Neutropenia Associated with GATA2 Mutations

Genetic analyses have helped characterize some congenital neutropenias. Mutations have been described in the neutrophil elastase ELANE gene among some patients with severe congenital neutropenia as well as in the HAX1 gene among those with Kostmann Syndrome and in the SBDS gene among those with Shwachman-Diamond Syndrome. A common characteristic of these disorders is evolution to myelodysplasia (MDS) or acute myelogenous leukemia (AML).

Now, investigators in France report a high frequency of mutations in the GATA2 gene associated with mild chronic neutropenia evolving into MDS, AML, or MonoMac syndrome (deficiencies of monocytes, B-lymphocytes, and natural killer cells complicated by infection with mycobacterial, fungal, and viral organisms)…