Table 2 Therapy, severity of clinical phenotype and course of the disease in different CSF2RA mutations
From: Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
CSF2RA mutation | |||||
|---|---|---|---|---|---|
Subject | Allele 1 | Allele 2 | Symptom onset | WLL | Course |
A | p.Arg199X | p.Arg199X | severe | yes | improving |
B | G > A Ex12/Int12 border | G > A Ex12/Int12 border | moderate | yes | improving |
C | dupl.Ex8 | dupl.Ex8 | moderate | yes | improving |
D | dupl.Ex8 | dupl.Ex8 | asymptomatic | no | asymptomatic |
E | ΔEx2-13 | ΔEx2-13 | moderate | yes | improving |
F | ΔEx2-13 | ΔEx2-13 | asymptomatic | no | asymptomatic |
G | Xp22.3 | Yp11.3 | severe | yes | improving |
H | p.Ser25X | p.Ser25X | severe | yes | improving |
I | p.Gly196Arg | p.Gly196Arg | severe | yes | improving |
J | p.Gly196Arg | p.Gly196Arg | mild | no | improving |
K | p.Gly196Arg | p.Gly196Arg | moderate | yes | stable |
L | 920dupGC | 920dupGC | severe | yes | improving |
M | p.Arg217X | p.Arg217X | asymptomatic | no | asymptomatic |
N | p.Arg217X | p.Arg217X | severe | yes | n.a. |
O | p.Arg217X | p.Arg217X | moderate | yes | n.a. |
P | ΔEx7 | ΔEx7-8 | severe | yes | improving |
Q | XpΔ0.41 | XpΔ1.6, Xq | severe | yes | death |
R | p.Gly174Arg | p.Gly174Arg | severe | yes | n.a. |
S | p.Gly174Arg | p.Gly174Arg | mild | n.a. | n.a. |
T | Xp22.33p22.2 | ΔCSF2RA | n.a. | n.a. | n.a. |