Patients with a GATA2 deficiency showed significantly elevated MAC scores in advanced disease (MAC score mean ± SD in GATA2-EB was 1.487 ± 1.184 versus 0.4425 ± 0.3659 in GATA2-RCC, p < 0.01, Figure 5D). The gene discussed is GATA2; the disease is epidermolysis bullosa.