TableĀ 3

Histology of patients with compound heterozygous ABCA3 mutations

Patient IDMutationHistological pictureType II** pneumocyte hyperplasiaAlveolar** macrophage accumulationInterstitial** fibrosisAlveolar** septal thickeningElectron dense bodiesAge at biopsy (years)
24p.P193S
p.G1421R
NSIP, PAP, DIP*3312ND0.1
26p.L268_L269insL
p. L1386P
Neonatal PAPND0.1
27p.R43C
p.R208W
DIP3212ND1.5
28p.P32S
p.G1314E
NSIP, DIP*3322ND3
30p.R280H
p.R1305L
Diffuse alveolar damage, intra-alveolar fibrinous exudateND0
31p.R709W
p.I1193M
PAPND36
34p.L798P
p.R1612P
CPI2101ND0.1
36p.A1046E
p.A1338T
p.DelEx29
CPI, increased eosinophils3323Yes0.3
38p.L579P
p. R1272Gfs*73
PAP3202Yes0.2
39p.L1584Rfs*49
p.R43L
p.R288K
CPI3202YesNA
  • *Combined picture of; **severity of indicated finding: 0=none, 1=discrete, 2=moderate, 3=strong; severity indicated for available material. CPI, chronic pneumonitis of infancy; DIP, desquamative interstitial pneumonia; NA, not available; ND, not done; NSIP, non-specific interstitial pneumonia; PAP, pulmonary alveolar proteinosis.