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Table 3 Autoantibodies profile in various series

From: An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations

Group ANCA n (%) PR3 n (%) MPO n(%) RF n(%) Anti CCP n(%) ANA n(%) ENA n(%) Treatment experience
Watkin LB. et al., 2015 [3] (n = 21) 15 (71) NA NA 9 (43) NA 14 (67). 0/0
Symptomatic partial response to immunosuppression 21 (100)
Jensson BO.]et al. 2017 [4] (n = 3) 2 (67) NA NA 3 (100) 1 (33%) 3 (100) Titers up to 1:1280 NA Partial response to immunosuppression
Responded to MMF, Hydroxychloroquine, and steroids.
Brennan MA. et al.2017 [8] (n = 1) NA NA NA NA NA 1/1 (100%) 1/1 (100%) Pulse and oral steroids, Monthly-six doses of Cyclophosphamide, MTX, Rituximab. Currently on combination therapy: MMF, Hydroxychloroquine, steroids.
Comorbidities: GERD, Cystic Fibrosis, SLE. Developed MAS.
Volpi S. 2018 [7] (n = 1) 0/1 (0%) NA NA 1/1 (100%) NA Yes
(but not at the presentation)
NA Partial response to immunosuppression
Tsui JL. 2018 [2] (n = 14) 9/12 (64%) 3/9 (33%) 2/9 (22%) 10/14 (71%) 3/14 (21%) 12/14 (86%)
titers 1:40 to 1:320
0/14 (100%) Partial response to immunosuppression Most patients with diffuse alveolar hemorrhage (DAH) responded to pulse methylprednisolone and monthly-six doses of cyclophosphamide, but few subsequently needed rituximab. Poor response to Methotrexate, AZA, and Etanercept. Most patients are doing better on low dose prednisone+ MMF+ Hydroxychloroquine.
2/14 (14%) needed a bilateral lung transplant.
Patwardhan A. (n = 2) 2/2 (100%) Index case: Negative Father of the index case: NA Index case: Negative Father of the index case: NA 0/2 (0%) Index case: Negative Father of the index case: NA 2/2 (100%) Titers up to 1:1280 Index case: Negative Father of the index case: Negative IC had a partial response to immunosuppression (no response to Methotrexate, AZA). Good response to pulse steroids followed by
MMF+ low dose oral steroids.
C2-was treated with repeated pulse steroids, oral high and low dose steroids and now with adalimumab and methotrexate for arthritis.
  1. NB: c-ANCA Cytoplasmic antineutrophil cytoplasmic antibodies. p-ANCA Perinuclear antineutrophil cytoplasmic antibodies. PR3 antibody against proteinase 3 of neutrophils and monocytes. MPO Antibody against myeloperoxidase enzyme expressed in neutrophils. RF Rheumatoid factor. Anti CCP Anti-Cyclic Citrullinated Peptide. ANA Antinuclear Antibodies. ENA Extractable Nuclear Antigen antibodies panel. NA Not available, MMF Mycophenolate Mofetil. AZA Azathioprine. Tsui al. group has common patients with Levi B Watkin group but had more detailed information on pulmonary symptoms