[Type I interferonopathies].

Area of Science:

• Immunology
• Genetics
• Pediatrics

Context:

• Type I interferonopathies are a class of Mendelian disorders.
• These conditions share a common pathophysiology involving the upregulation of type I interferons.
• Known interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS), and Singleton-Merten syndrome.

Purpose:

• To summarize the current understanding of type I interferonopathies.
• To highlight the phenotypic overlap, particularly cutaneous features like chilblain lupus.
• To underscore the rapid evolution of this field with new disease and gene discoveries.

Summary:

• Type I interferonopathies are characterized by the overproduction of type I interferons, leading to a spectrum of Mendelian disorders.
• Phenotypic overlap is common, with early-onset cutaneous manifestations such as chilblain lupus being notable.
• The field is dynamic, with ongoing identification of novel genes and diseases within this group of inborn errors of immunity.

Impact:

• Advances in understanding type I interferon pathophysiology are enabling the development of targeted therapies.
• Emerging treatments, including Janus-kinase and reverse transcriptase inhibitors, are under evaluation.
• This research holds promise for improved management of these complex genetic immune disorders.