Table 2 Ex vivo evidence for functionality of ABCA3 transport activity.
From: Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3
Patient | Codea | Immunohistologic staining for ABCA3 | Electron microscopy | Dipalmitoyl-phosphatidylcholine (PC 32:0) (% total PC) in BAL | Overall evidence for ABCA3 transport activity |
|---|---|---|---|---|---|
Expected normal result |  | Type 2 cells with granular ring-like structures | Concentric lamellar | 45.8 ± 3.6b |  |
1 | 199 | NA | Yes, normal | 40.8 | Yes |
2 | 652 | NA | NA | 40.7 | Yes |
3 | 1300 | Yes, normal | Yes, normal | 41.1 | Yes |
4 | 1468 | Yes, normal | NA | 42.1c | Yes |
5 | 1479 | Yes, normal | NA | 23.5 | Yes, marginal |
6 | 1601 | NA | NA | NA | Yes, no investigations as mild course |
7 | 2253 | Yes, normal | Yes, normal | 30.6c | Yes |
8 | 2405 | NA | NA | NA | Yes, no investigations as mild course |
9 | 2741 | NA | NA | NA | Yes, no investigations as mild course |