Table 2.
Demographics, immunohistochemistry for MUC5B, and MUC5B genotype. “AEII” represents cells morphologically consistent with alveolar epithelial type II cells. Genotype is for the MUC5B promoter variant. GG = wildtype genotype and GT = heterozygous for the variant. (Note: patients 2, 4, and 6 correspond to patients 11, 15, and 12, respectively in Table 1)
| Patient # | Age at biopsy | Disease state | Mutation | Interstitial Fibrosis | Brichos | MUC5B in “AEII” | Genotype |
|---|---|---|---|---|---|---|---|
| 1 | 2 months | SPC | G182R | no | yes | yes | GG |
| 2 | 2 months | SPC | c460+1G>A | no | yes | yes | GG |
| 3 | 3 months | SPC | 100Glu->Val and 103Leu->Val | no | no | no | GT |
| 4 | 5 months | SPC | 140delA | no | yes | yes | GG |
| 5 | 16 months | SPC | I73T | no | no | no | GG |
| 6 | 22 months | SPC | L188Q L->A | yes | yes | yes | GT |
| 7 | 21 days | ABCA3 | no | no | GG | ||
| 8 | 2 months | ABCA3 | no | no | GG | ||
| 9 | 16 days | ABCA3 | no | no | GG | ||
| 10 | 15 months | control | no | no | GG | ||
| 11 | 5 months | control | no | no | GG | ||
| 12 | 11 months | control | no | no | GG | ||
| 13 | 23 months | control | no | no | GG | ||
| 14 | 3 months | control | no | no | GG | ||
| 15 | 7 months | control | no | no | GG |
SPC = patients with SFTPC mutations, ABCA3 = patients with ABCA3 mutations