Mendelian autoinflammatory diseases characterized by constitutive activation of the type I
interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding …

Heterozygous missense mutations in COPA, encoding coatomer protein subunit alpha
(COPA), cause an interferonopathy mainly associating lung, joint and kidney involvement …

Type I interferonopathies are a broad category of conditions associated with increased type I
interferon gene expression and include monogenic autoinflammatory diseases and non …

In addition to being a vital organ for gas exchange, the lung is a crucial immune organ
continuously exposed to the external environment. Genetic defects that impair immune …

While radiography is the first-line imaging technique for evaluation of pulmonary disease,
high-resolution computed tomography (HRCT) provides detailed assessment of the lung …

Methods Published articles and conference abstracts were identified through the literature
search for “COPA syndrome.” No relevant results returned for “autoimmune interstitial lung …

Background Autosomal dominant mutations in the coatomer-associated protein alpha
(COPA) gene cause an immune dysregulation disorder associated with pulmonary …

Connective tissue diseases are a heterogeneous group of autoimmune diseases that can
affect a variety of organ systems. Lung parenchymal involvement is an important contributor …

Pulmonary lymphoproliferative disorders represent an uncommon spectrum of proliferation
of lymphoid tissue in the lung parenchyma ranging from benign hyperplasia to malignancy …

Lymphocytic interstitial pneumonia (LIP) in pediatric patients without human
immunodeficiency virus (HIV) infection remains a poorly characterized and enigmatic …