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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Archive ouverte | Lodi, Lorenzo | CCSD

International audience. Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the ba...

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

Archive ouverte | Frémond, Marie-Louise | CCSD

International audience. The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly ...

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Archive ouverte | Lepelley, Alice | CCSD

International audience. 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 key adaptor o...

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