TY - JOUR
T1 - Natural gene therapy in hematopoietic disorders
T2 - GATA too
AU - Jongmans, Marjolijn C
AU - Kuiper, Roland P
N1 - Publisher Copyright:
© 2020 by The American Society of Hematology
PY - 2020/8/20
Y1 - 2020/8/20
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85089769467&partnerID=8YFLogxK
U2 - 10.1182/blood.2020007001
DO - 10.1182/blood.2020007001
M3 - Article
C2 - 32818248
SN - 0006-4971
VL - 136
SP - 923
EP - 924
JO - Blood
JF - Blood
IS - 8
ER -