TableĀ 2

Histology and electron microscopy of patients with homozygous ABCA3 mutations

Patient IDMutationOverall main patternType II** pneumocyte hyperplasiaAlveolar** macrophage accumulationInterstitial** fibrosisAlveolar** septal thickeningElectron-dense bodiesAge at biopsy (years)
1p.P193RNSIP, PAP, DIP*Yes0.1
3***p.Q215K, p.R288KNSIP, PAP, DIP*Yes0.1
5p.K1388NCPI, strong eosinophilia3222Yesp.m., 0.2
7p.E1364KCPIND0.4
9p.Q1045RDIPND0.3
11p.G964DPulmonary fibrosis with an UIP pattern2133ND13
12p.G964DAreas with NSIP, with interstitial scarring and normal areasND57
14p.R1561XCPI3303ND0.1
16p.R1561XNAYes0.1
17p.R1561XNSIP, DIP*3312NDp.m., 0.2
19Del Ex16,fsCPIYes plus few regular lamellar bodies0.2
20p.F810Cfs*2PAP, NSIP*2111NDp.m., 0.0
21delEx22Severe interstitial fibrosis, CPIYes0.1
22p.E1626Vfs*16PAPNDp.m., 0.1
  • *Combined picture of; **severity of indicated finding 0=none, 1=discrete, 2=moderate, 3=strong, severity indicated for available material; ***two homozygous variations.

  • CPI, chronic pneumonitis of infancy; DIP, desquamative interstitial pneumonia; NA, not available; ND, not done; NSIP, non-specific interstitial pneumonia; p.m., post mortem; PAP, pulmonary alveolar proteinosis; UIP, usual interstitial pneumonia.