GATA2 mutations, clinical characteristics, and immunological features of patients
| Identifier . | GATA2 cDNA . | Protein . | Age at onset, years . | HPV . | Myco . | URTI . | Lung . | PAP . | AI . | MDS . | Lympho-edema . | Cancer . | FLT-3 pg/mL . | CMV serology . | Cells/μL . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NK cells . | B cells . | Monocytes . | |||||||||||||||
| Patient 1 | c.599insG | p.G200fs | 60 | + | − | + | + | − | − | + | − | − | 2662 | ND | 380 | 114 | 260 |
| Patient 2 | c.803delG | 29 | + | + | + | + | + | − | − | − | − | 2096 | + | 124 | 16 | 20 | |
| Patient 3 | c.1017+572C>T | Intronic | 28 | + | − | − | − | − | − | + | − | − | 2274 | — | 10 | 7 | 20 |
| Patient 4 | c.1018-1G>T | p.D340-381 | 18 | + | − | + | − | − | + | − | − | − | 6874 | + | 21 | 71 | 4 |
| Patient 5 | c.1143+5G>A | Splicing | 21 | + | − | + | + | − | − | − | − | − | ND | + | 3 | 3 | 243 |
| Patient 6 | c.1186C>T | p.R396W | 7 | − | + | + | + | − | − | + | − | − | 1448 | + | 44 | 10 | 0 |
| Patient 7 | c.1186C>T | p.R396W | 18 | + | + | + | + | − | − | + | + | − | ND | − | 2 | 30 | 0 |
| Patient 8 | c.1187G>A | p.R396Q | 17 | + | − | − | + | − | − | + | − | − | ND | + | 21 | 34 | 0 |
| Patient 9 | c.1192C>T | p.R398W | ? | ND | − | ND | + | + | − | − | − | − | 3169 | ND | 103 | 26 | 800 |
| Patient 10 | c.1193G>A | p.R398Q | 29 | − | − | + | − | − | − | − | − | − | 81 | ND | 207 | 102 | 425 |
| Asympt. carrier 1 | c.1017+572C>T | Intronic | 61 | − | − | − | − | − | − | − | − | −* | 24 | − | 128 | 97 | 690 |
| Asympt. carrier 2 | c.1017+572C>T | Intronic | 52 | − | − | − | − | − | − | − | − | − | 34 | − | 106 | 149 | 510 |
| Asympt. carrier 3 | c.1193G>A | p.R398Q | 32 | − | − | − | − | − | − | − | − | − | 69 | ND | 10 | 140 | 684 |
| Identifier . | GATA2 cDNA . | Protein . | Age at onset, years . | HPV . | Myco . | URTI . | Lung . | PAP . | AI . | MDS . | Lympho-edema . | Cancer . | FLT-3 pg/mL . | CMV serology . | Cells/μL . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NK cells . | B cells . | Monocytes . | |||||||||||||||
| Patient 1 | c.599insG | p.G200fs | 60 | + | − | + | + | − | − | + | − | − | 2662 | ND | 380 | 114 | 260 |
| Patient 2 | c.803delG | 29 | + | + | + | + | + | − | − | − | − | 2096 | + | 124 | 16 | 20 | |
| Patient 3 | c.1017+572C>T | Intronic | 28 | + | − | − | − | − | − | + | − | − | 2274 | — | 10 | 7 | 20 |
| Patient 4 | c.1018-1G>T | p.D340-381 | 18 | + | − | + | − | − | + | − | − | − | 6874 | + | 21 | 71 | 4 |
| Patient 5 | c.1143+5G>A | Splicing | 21 | + | − | + | + | − | − | − | − | − | ND | + | 3 | 3 | 243 |
| Patient 6 | c.1186C>T | p.R396W | 7 | − | + | + | + | − | − | + | − | − | 1448 | + | 44 | 10 | 0 |
| Patient 7 | c.1186C>T | p.R396W | 18 | + | + | + | + | − | − | + | + | − | ND | − | 2 | 30 | 0 |
| Patient 8 | c.1187G>A | p.R396Q | 17 | + | − | − | + | − | − | + | − | − | ND | + | 21 | 34 | 0 |
| Patient 9 | c.1192C>T | p.R398W | ? | ND | − | ND | + | + | − | − | − | − | 3169 | ND | 103 | 26 | 800 |
| Patient 10 | c.1193G>A | p.R398Q | 29 | − | − | + | − | − | − | − | − | − | 81 | ND | 207 | 102 | 425 |
| Asympt. carrier 1 | c.1017+572C>T | Intronic | 61 | − | − | − | − | − | − | − | − | −* | 24 | − | 128 | 97 | 690 |
| Asympt. carrier 2 | c.1017+572C>T | Intronic | 52 | − | − | − | − | − | − | − | − | − | 34 | − | 106 | 149 | 510 |
| Asympt. carrier 3 | c.1193G>A | p.R398Q | 32 | − | − | − | − | − | − | − | − | − | 69 | ND | 10 | 140 | 684 |
A survey of GATA-2–related clinical features of the cohort is presented. Normal cellular ranges were: 126 to 729 NK cells per microliter; 61 to 321 B cells per microliter; and 300 to 820 monocytes per microliter.
+, Positive history; −, negative history; AI, autoimmunity (arthritis, panniculitis, or autoimmune cytopenia); Asympt., asymptomatic; Cancer, nonhematopoietic malignancy; cDNA, complementary DNA; HPV, persistent infection of hands, feet, or perineum with human papillomavirus; Lymph, lymphedema; Lung, loss of lung volume or transfer factor, 80% predicted, history of bronchiectasis, chronic bronchitis, >1 episode of pneumonia, radiologically or pathologically confirmed pulmonary alveolar proteinosis; MDS, WHO (refractory cytopenia with multilineage dysplasia); Myco, any history of mycobacterial infection; ND, not determined; PAP, pulmonary alveolar proteinosis; URTI, >3 episodes of recurrent bacterial sinusitis, otitis, or other upper respiratory tract infection.
Deceased.