COPA variant | Affected kindreds (patients) | Ethnicity/ nationality | Lung | Kidney | Rheumatology/ autoimmune | Other | References |
p.Arg233His | 1 (4) | White | FB, ILD, cysts, carcinoid tumour | Clear cell carcinoma | Arthritis, AVN, neuromyelitis optica | Liver/renal cysts, nephrolithiasis, pyelonephritis meningitis, RSV infection | This report |
p.Arg233His | 3 (9) | White, Asian | FB, ILD, AH, cysts | Glomerulonephritis | Arthritis, AVN, thyroid disease | Watkin et al, Volpi et al 1 17 | |
p.Asp243Gly | 1 (3) | White | ILD, AH | Glomerulonephritis, tubular disease | Arthritis | Watkin et al 1 | |
p.Glu241Lys | 2 (8) | White, Icelandic | FB, ILD, AH, cysts, neuroendocrine cell hyperplasia | Arthritis | Recurrent respiratory infections | Watkin et al, Jenson et al 1 4 | |
p.Lys230Asn | 1 (5) | White | ILD, AH | Glomerulonephritis | Dyskinesia | Watkin et al 1 | |
p.Trp240Arg | 1 (1) | African American | ILD, AH?, cysts | Arthritis | Failure to thrive | Noorelahi et al 7 | |
p.Asp243Asn | 1 (1) | NR | ILD, inflammation, aspiration | Arthritis, MAS | GORD | Brennan et al 8 |
AH, alveolar haemorrhage; AVN, avascular necrosis; FB, follicular bronchitis; GORD, gastro-oesophageal reflux disease; ILD, interstitial lung disease; MAS, macrophage activation syndrome; NR, not reported; RSV, respiratory syncytial virus.