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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.