Fig. 1.

Pedigrees of the ten families, including 14 patients, with known GATA2 deficiency. Solid symbols denote affected status. Individuals marked in gray are deceased and not tested for GATA2 deficiency but are suspected to carry the disease-causing variant. In family G, the mother of Patients 10 and 11 died at age 30 of acute respiratory distress syndrome, 27 years ago. She also had lymphedema since birth. In light of their mother’s medical history, the GATA2 variant is probably maternally inherited. The father is alive and healthy. In family J, the mother of Patient 14 had a combined B and T cell defect, warts, myelodysplastic syndrome, lymphedema, and recurrent respiratory tract infections. She died of vulval cancer at the age of 38. The maternal grandfather of Patient 14 died of acute leukemia at the age of 33. WT, wild-type