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Table 2 Demography, presentation, and extra pulmonary disease patters in different 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 Total (n) Age of presentation below five years and pattern of presentation. n (%) Demography n (%) Extrapulmonary disease n (%)
Arthritis Kidney disease
Watkin LB. et al., 2015 [3] (21). The access to clinical information and DNA on twenty-one patients from the five families, there was a total of twenty-seven affected patient. 16/21 (76%) Presentation: Hemoptysis, Tachypnea, Cough: 14/21 (67%), Arthralgia:5/21 (24%). Males: 8/21 (38%). Females: 13/21 (62%).
Age range at presentation was six months to 22 years. Mean age at presentation was 3.5 years.
20/21 (95%)
Destructive polyarthritis 20/21 (95%) (Involving both small and large joints).
Most commonly affected joints were knees and the interphalangeal joints of the hands. 2/21 (9.5%) had osteonecrosis along the femur, patella, and tibiofibula. 1/21 (4.7%) had fat necrosis.
No uveitis.
4/21 (19%)
No specific clinical or histopathological disease patterns.
Jensson BO. et al. 2017 [4] (3) (two generations in the same family) 1/3 (33%)
The index case (IC): diagnosed at 32 years of age but had a history of JIA. The male child of the index case (MC2) presented at 11 years with a chronic cough and asthma-like symptoms and polyarthritis, female child (FC3) at 18 months of age as JIA and at ten years developed exercise intolerance, recurrent respiratory infections, and a recurring skin rash
All the three presented as JIA and years later developed pulmonary symptoms. The pulmonary and joints symptoms did not run hands in hand.
1/3 F (33%) Index case diagnosed at 32 years but had H/O JIA.
(MC2) 1/3 (33%) presented at
11 years of age with respiratory symptoms and arthritis.
(FC3) 1/3 (33%) presented at 18 months of age with arthritis.
All the three were caucasian- Icelandic.
3/3 (100%)
Polyarthritis (large and small joints) which went into remission without joint destruction in 2/3 (67%) of patients. No Uveitis.
0/3 (0%)
Brennan MA. 2017 [8] (1) 1/1 (100%)
Presented with small and large joint arthritis
30 months old F, Caucasian. 1/1 (100%) Polyarthritis (large and small joints) No Uveitis.
Arthritis went into remission after 13 months with no joint destruction. Comorbidities: gastro-esophageal reflux, CF, SLE, MAS.
0/1 (100%)
Volpi S 2018 [7] (1) 1/1 (100%)
Presented with arthritis of wrists, cervical spine, metacarpophalangeal joints, and left hip.
Three years old Caucasian female Severe, progressive destructive, Polyarticular (small and large joints) degenerative osteoarthritic changes ++.
Poor response to immunosuppressants and steroids.
0/1 (100%)
Tsui JL. 2018 [2] (14) Age at presentation: years < 1–1/14 (7%), 2–9 years- 10/14 (71%),
10–12 years – 3/14 (21%).
Presentation: Arthralgia-7/14 (50%), hemoptysis-4/14 (28.5%),
Shortness of breath-9/14 (64%),
Renal disease-0/14 (0%)
Males: 3/14 (21%),
Females: 11/14 (79%), Caucasians:12/14 (86%), Asian: 2/14 (14%),
14/14 (100%)-Poly arthritis (small and large joints)
2/14 (14%) had cervical spine arthritis.
No Uveitis.
3/14 (21%)
Renal: 2/3 (67%) renal biopsies had IgG, IgA, IgM, C1q positive. 1/3 (33%) had strongly positive IgA immunofluorescence. Two were ANCA positive (one PR3 positive). None required hemodialysis.
Patwardh A. (2) (two generations in the same family). The index case (IC) and the father of the index case (C2). 1/2 (100%)
Both presented with a chronic cough, recurrent respiratory infections, asthma-like symptoms, deteriorating exercise tolerance, shortness of breath, unexplained chronic anemia.
2/2 (100%) males.
IC: 2 years eight months old at presentation, mixed race (Caucasian- Hispanic). C2: 7 years old (maybe younger) at presentation, Caucasian male.
0/2 (0%)
C2 had arthralgia up until 26 years of age but then developed severe destructive polyarthritis involving small as well as large joints. Index case had no joint symptoms.
0/2 (0%)
  1. MAS Macrophage activation syndrome. IC Index case and C2 Father of the index case. MC2 The male child of index case. FC3 A female child of the index case. FEV1 Forced expiratory volume in 1 s, FVC Forced vital capacity. ATS American thoracic society. LFT Lung function test. Tsui al. group had common patients with Levi B Watkin et al. group but had more detailed information on pulmonary symptoms