Natural gene therapy in hematopoietic disorders: GATA too

Abstract

In this issue of Blood, Catto et al1 describe for the first time the occurrence of somatic genetic rescue (SGR) in an asymptomatic individual carrying a pathogenic germline mutation in GATA2. The authors hypothesize that early recovery of hematopoiesis may also have prevented extrahematological features of GATA2 deficiency in this individual. The finding of SGR in GATA2 deficiency stresses once more that awareness for this phenomenon is needed in genetic counseling and testing of pre- or asymptomatic individuals in families with hereditary bone marrow failure.