Comparison of GATA2-mutated patients with MDS patients and genotype-phenotype correlations. (A-D) Comparison of controls (n = 21), patients with MDS (n = 12), and patients with symptomatic GATA2 mutation (n = 18). (A) Automated blood counts. (B-D) DCs, monocytes, and lymphocyte subsets by Trucount analysis. Analysis was performed as previously described.1 (E) Summary of clinical features among symptomatic carriers of GATA2 mutation by genotype (11 frameshift and 13 substitutions). (F) Profile of clinical score as defined in Table 1 according to genotype. (G) Age at presentation by genotype. *P < .05; **P < .01; ***P < .001. C, controls (or reference range); HPV, human papilloma virus; mono, monocyte; PAP, pulmonary alveolar proteinosis; URTI, upper respiratory tract infection.
