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
| Â | 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 (NÂ =Â 2) |
Age of onset | Child | 11Â years old | 18Â months | 2 and 4Â 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 | Â | |
Exercise intolerance | Exercise intolerance | Nail Clubbing | Â | |
| Â | Pulmonary hypertension | Â | Â | |
| Â | Intra-alveolar hemorrhage | Â | 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 |  | |
| Â | ANCA neg. | ANCA neg. | Â | |
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 | Â | |
Immunosuppressants | Immunosuppressants | Immunoglobulins | Â |