Conditions / Syndrome
autoimmune interstitial lung, joint, and kidney disease
info · Syndrome
An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Signs and symptoms
- Hemosiderin-laden macrophages in bronchoalveolar fluid
- Restrictive ventilatory defect
- Abnormal pulmonary interstitial morphology
- Arthritis
- Antinuclear antibody positivity
- Pulmonary hemorrhage
- Elevated erythrocyte sedimentation rate
- Decreased DLCO
- Elevated circulating C-reactive protein concentration
- Crescentic glomerulonephritis
Also known as: Autoimmune interstitial lung disease-arthritis syndrome; COPA syndrome; autoinflammation and autoimmunity, Systemic with immune dysregulation; systemic autoinflammation and autoimmunity with immune dysregulation 1