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Table 1 The reported phenotypes for two affected family members of Family C in Watkin et al. compared to the phenotypes seen in the affected Icelanders

From: COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

  Index case (II-3) Son (III-1) Daughter (III-2) Family C from Watkin et al. [2]
COPA mutation p.Glu241Lys p.Glu241Lys p.Glu241Lys p.Glu241Lys (2/2)
Sex Female Male Female Female (N = 2)
Age of onset Child 11 years old 18 months 2 and 4 years old
Respiratory/ Lung Lung restriction Lung obstruction Lung restriction / obstruction (2/2)
Follicular bronchiolitis Follicular bronchiolitis Follicular bronchiolitis Interstitial lung disease (2/2)
Diffusion capacity defect Diffusion capacity defect Diffusion capacity defect Diffusion capacity defect (2/2)
Respiratory infections Respiratory infections Respiratory infections  
Exercise intolerance Exercise intolerance Nail Clubbing  
  Pulmonary hypertension   
  Intra-alveolar hemorrhage   Pulmonary hemorrhage (1/2)
Kidney
Joints Arthritis Arthritis, joint pain Arthritis Arthritis, joint pain (2/2)
Serologies ↑ ANA (mild) ↑ ANA ↑ ANA ↑ ANA (1/2)
↑ RF (mild) ↑ RF (very mild) ↑ RF ANCA neg. (2/2)
anti-CCP neg. ↑ anti-CCP (very mild) ↑ anti-CCP  
  ANCA neg. ANCA neg.  
Immunoglobulins ↑ IgG (mild) ↑ IgG (mild), ↑ IgA (mild) ↓ IgG (total, IgG1 and IgG4), ↓ IgA ↑ IgG (1/2), ↑ IgA (1/2)
Therapy Lung transplantation Lung transplantation Steroids Steroids (2/2)
Oxygen therapy Oxygen therapy Immunosuppressants Immunosuppressants (2/2)
Steroids Steroids Bronchodilators  
Immunosuppressants Immunosuppressants Immunoglobulins