Table 1.
Characteristics of Patients With GATA2 Deficiency (N = 124)
| Characteristic | Probands (n = 95) | Relatives (n = 29) |
|---|---|---|
| Sex | ||
| Male | 34 (36) | 13 (44) |
| Female | 61 (64) | 16 (55) |
| Age, y | ||
| Mediana | 33 | 36 |
| Range | 8-86 | 6-86 |
| IQR | 22-40 | 18-59 |
| Race | ||
| White | 73 (76) (n = 46 female) | 23 (80) (n = 13 female) |
| Black | 3 (3) (n = 3 female) | |
| Asian | 2 (2) (n = 2 male) | |
| Unknown or multiracial | 15 (15) (n = 11 female) | 3 (10) (n = 2 female) |
| American native | 2 (n = 1 female) | 3 (10) (n = 1 female) |
| Pulmonary alveolar proteinosis | 11 | 0 |
| Pulmonary function tests | ||
| FEV1, % predicted | 82 (24-121) | 94 (60-113) |
| FVC, % predicted | 92 (37-129) | 96 (83-120) |
| Dlco adjusted for hemoglobin, % predicted | 63 (31-111) | 76 (54-115) |
| Myelodysplasia or monocytopenia | 42 (44) | 4 (14) |
| Nontuberculous mycobacteria | 42(44) | 0 |
| Viral infection (including warts) | 70 (73) | 16 (55) |
| Fungal infection | 24 (25) | 3 (10) |
| Malignancy (other than myelodysplasia or leukemia) | 11 (11) | 1 (0.3) |
| Bone marrow transplantation | 58 (61) | 7 (24) |
Data are presented as No. (%), No., or median (range), unless otherwise indicated. Dlco = diffusing capacity for carbon monoxide; IQR = interquartile range.
a
Median age reflects all patients alive at time of report. Those who underwent transplantation were censored at the time of hematopoietic stem cell transplantation.