Details

Autor(en) / Beteiligte

• Munoz, J
• Marque, M
• Dandurand, M
• Meunier, L
• Crow, Y-J
• Bessis, D

Titel

Type I interferonopathies

Ist Teil von

• Annales de dermatologie et de vénéréologie, 2015-11, Vol.142 (11), p.653-663

Ort / Verlag

France

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology: the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. This novel set of inborn errors of immunity is evolving rapidly, with recognition of new diseases and genes. Recent and improved understanding of the physiopathology of overexpression of type I interferons has allowed the development of targeted therapies, currently being evaluated, like Janus-kinases or reverse transcriptase inhibitors.