Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome
overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a …

Abstract Purpose of Review Type I interferons (IFNαβ) induce the expression of hundreds of
genes; thus, it is unsurprising that the initiation, transmission, and resolution of the IFNαβ …

Background Copa syndrome is a rare autosomal dominant disorder with abnormal
intracellular vesicle trafficking. The objective of this work is to expand the knowledge about …

COPA syndrome is a newly discovered hereditary immunodeficiency affecting the lung,
kidneys, and joints. The mutated gene encodes the α subunit of the coatomer complex I, a …

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

Abstract Purpose of the Review Type I interferonopathies are monogenic autoinflammatory
diseases induced by constitutive activation of type I interferon. Here, we provide an overview …

Objective Coatomer subunit alpha (COPA) syndrome, also known as autoinflammatory
interstitial lung, joint, and kidney disease, is caused by heterozygous mutations in COPA …

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

Pulmonary fibrosis (PF) is a very rare condition in children, which may be observed in
specific forms of interstitial lung disease. None of the clinical, radiological, or histological …