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 al1 17
p.Asp243Gly1 (3)WhiteILD, AHGlomerulonephritis, tubular diseaseArthritisWatkin et al1
p.Glu241Lys2 (8)White, IcelandicFB, ILD, AH, cysts, neuroendocrine cell hyperplasiaArthritisRecurrent respiratory infectionsWatkin et al, Jenson et al1 4
p.Lys230Asn1 (5)WhiteILD, AHGlomerulonephritisDyskinesiaWatkin et al 1
p.Trp240Arg1 (1)African AmericanILD, AH?, cystsArthritisFailure to thriveNoorelahi et al7
p.Asp243Asn1 (1)NRILD, inflammation, aspirationArthritis, MASGORDBrennan et al8
  • 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.