医学
间质性肺病
自身抗体
肺
疾病
肺纤维化
肺炎
病理
寻常性间质性肺炎
免疫学
纤维化
内科学
抗体
作者
Noa Simchoni,Tiphanie P. Vogel,Anthony K. Shum
标识
DOI:10.1016/j.rdc.2023.06.005
摘要
COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many individuals also having arthritis and nephritis. Onset is usually in early childhood, with unique disease features including alveolar hemorrhage, which can be insidious, pulmonary cyst formation, and progressive pulmonary fibrosis in nonspecific interstitial pneumonia or lymphocytic interstitial pneumonia patterns. This review explores the clinical presentation, genetics, molecular mechanisms, organ manifestations, and treatment approaches for COPA syndrome, and presents a diagnostic framework of suggested indications for patient testing.
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