Clinical features of study subjects
| Subject no. . | GATA2 mutation . | Sex . | Overall clinical manifestations . | Age, y . | BM diagnosis . | BM cytogenetics . | NK (126-729/μL) . | B (61-321/μL) . | Monocytes (0.24-0.86 K/μL) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | R361H | M | MDS, warts, frequent sinus/lung infections | 31 | Hypoplastic MDS | 46, XY [20] | 2 | 42 | 0.01 |
| 2 | R337X | F | MDS, lymphedema | 49 | Hypoplastic marrow | 46, XX [20] | 2 | 1 | 0.02 |
| 3 | Intron 5 | F | MDS, warts | 29 | Hypoplastic MDS | 46, XX, +1, der(1;14)(q10;p10) [5]/47, idem, +21 [5]/46, XX [10] | 10 | 7 | 0 |
| 4 | Intron 5 | M | Asymptomatic carrier | 60 | Normal BM | 46, XY [20] | 230 | 64 | 0.8 |
| Subject no. . | GATA2 mutation . | Sex . | Overall clinical manifestations . | Age, y . | BM diagnosis . | BM cytogenetics . | NK (126-729/μL) . | B (61-321/μL) . | Monocytes (0.24-0.86 K/μL) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | R361H | M | MDS, warts, frequent sinus/lung infections | 31 | Hypoplastic MDS | 46, XY [20] | 2 | 42 | 0.01 |
| 2 | R337X | F | MDS, lymphedema | 49 | Hypoplastic marrow | 46, XX [20] | 2 | 1 | 0.02 |
| 3 | Intron 5 | F | MDS, warts | 29 | Hypoplastic MDS | 46, XX, +1, der(1;14)(q10;p10) [5]/47, idem, +21 [5]/46, XX [10] | 10 | 7 | 0 |
| 4 | Intron 5 | M | Asymptomatic carrier | 60 | Normal BM | 46, XY [20] | 230 | 64 | 0.8 |
Age, BM, diagnosis and cytogenetic results, peripheral blood NK, and B and monocyte counts at the time of PBMC collection for iPSC generation, except for subject 2, in which findings at the time of skin biopsy for fibroblast generation were listed. Reference ranges for counts are in parentheses.
BM, bone marrow; F, female; M, male.