Table 1

Clinical manifestations in patients with COPA variants

COPA variantAffected kindreds (patients)Ethnicity/
p.Arg233His1 (4)WhiteFB, ILD, cysts, carcinoid tumourClear cell carcinomaArthritis, AVN, neuromyelitis opticaLiver/renal cysts, nephrolithiasis, pyelonephritis meningitis, RSV infectionThis report
p.Arg233His3 (9)White, AsianFB, ILD, AH, cystsGlomerulonephritisArthritis, AVN, thyroid diseaseWatkin et  al
Volpi et al 1 17
p.Asp243Gly1 (3)WhiteILD, AHGlomerulonephritis, tubular diseaseArthritisWatkin et al 1
p.Glu241Lys2 (8)White, IcelandicFB, ILD, AH, cysts, neuroendocrine cell hyperplasiaArthritisRecurrent respiratory infectionsWatkin et al, Jenson et al 1 4
p.Lys230Asn1 (5)WhiteILD, AHGlomerulonephritisDyskinesiaWatkin et al 1
p.Trp240Arg1 (1)African AmericanILD, AH?, cystsArthritisFailure to thriveNoorelahi et al 7
p.Asp243Asn1 (1)NRILD, inflammation, aspirationArthritis, MASGORDBrennan 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.