Histology of patients with compound heterozygous ABCA3 mutations
| Patient ID | Mutation | Histological picture | Type II** pneumocyte hyperplasia | Alveolar** macrophage accumulation | Interstitial** fibrosis | Alveolar** septal thickening | Electron dense bodies | Age at biopsy (years) |
|---|---|---|---|---|---|---|---|---|
| 24 | p.P193S p.G1421R | NSIP, PAP, DIP* | 3 | 3 | 1 | 2 | ND | 0.1 |
| 26 | p.L268_L269insL p. L1386P | Neonatal PAP | ND | 0.1 | ||||
| 27 | p.R43C p.R208W | DIP | 3 | 2 | 1 | 2 | ND | 1.5 |
| 28 | p.P32S p.G1314E | NSIP, DIP* | 3 | 3 | 2 | 2 | ND | 3 |
| 30 | p.R280H p.R1305L | Diffuse alveolar damage, intra-alveolar fibrinous exudate | ND | 0 | ||||
| 31 | p.R709W p.I1193M | PAP | ND | 36 | ||||
| 34 | p.L798P p.R1612P | CPI | 2 | 1 | 0 | 1 | ND | 0.1 |
| 36 | p.A1046E p.A1338T p.DelEx29 | CPI, increased eosinophils | 3 | 3 | 2 | 3 | Yes | 0.3 |
| 38 | p.L579P p. R1272Gfs*73 | PAP | 3 | 2 | 0 | 2 | Yes | 0.2 |
| 39 | p.L1584Rfs*49 p.R43L p.R288K | CPI | 3 | 2 | 0 | 2 | Yes | NA |
*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.