Effective sirolimus treatment of 2 COPA syndrome patients
Y Guan, H Liu, X Tang, H Xu, Y Peng… - The Journal of Allergy …, 2021 - jaci-inpractice.org
Heterozygous mutations in the gene encoding coatomer subunit alpha (COPA) can cause a
rare autosomal-dominant disorder, COPA syndrome. Patients with COPA syndrome exhibit
autoimmune lung disease, arthritis, and renal disease. Common pulmonary features include
diffuse alveolar hemorrhage, interstitial lung disease, and follicular bronchiolitis. 1, 2
Activation of the type I IFN pathway, increased endoplasmic reticulum stress, and expansion
of TH17 lymphocytes are all involved in the pathogenesis of COPA syndrome. Currently …
rare autosomal-dominant disorder, COPA syndrome. Patients with COPA syndrome exhibit
autoimmune lung disease, arthritis, and renal disease. Common pulmonary features include
diffuse alveolar hemorrhage, interstitial lung disease, and follicular bronchiolitis. 1, 2
Activation of the type I IFN pathway, increased endoplasmic reticulum stress, and expansion
of TH17 lymphocytes are all involved in the pathogenesis of COPA syndrome. Currently …