Table 3 Laboratory results of the patients with hematologic PAP
No | ID | GM-CSF auto-anti-bodies in serum | GM-CSF in plasma [pg/mL] (normal 5.5 ± 7.2)a | GATA2-gene analysis | Interpretation |
|---|---|---|---|---|---|
1 | 153 | Negative | n.a. | c.564 G > C ht; p.T188T | Synonymous variant; C-allele frequency of 0.09 |
2 | 163 | Negative | 5 | c.1129 T > G ht; p.Y377D | Missense mutation, deleterious |
3 | 194 | Negative | n.a. | Normal | |
4 | 432 | Negative | 2.9 | c.1192C > T ht;p.R398W | Missense mutation, deleterious |
5 | 1505 | Negative | 0.0 | Normal | |
6 | 1740 | Negative | 17.5 | Normal | |
7 | 2334 | Negative | 11.5 | c.490 G > A ht; p.A164T | Missense variant; tolerated, minor allele frequency of 0.24 |
8 | 2530 | Negative | 1.8 | Normal |