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Systemic involvement in TREX1-associated familial chilblain lupus

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  • TREX1 plays multiple roles in human diseases

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    An intriguing phenomenon is that the same pathogenic variant of TREX1, even in the same family, exhibits diverse penetrance. Taking the most common pathogenic variant found in patients with FCL, TREX1 D18N, as an example, some patients with this pathogenic variant suffered from both AGS and FCL [14,15], while others had only FCL [11–13,16,81]. These cases raised concerns that the epigenetic regulation of TREX1 expression and/or other TREX1-independent factors (such as environmental changes) should also be included in future studies on TREX1-associated inflammatory disease development.

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    Stimulator of interferon genes (STING), also known as transmembrane protein 173 (TMEM173), is a cytoplasmic adaptor protein that acts downstream of cGAS to enhance IFN-I production (Ishikawa et al., 2009). The loss-of-function mutations in a DNA-specific exonuclease gene TREX1, resulting in increased cytosolic DNA levels, are observed in the type I interferonopathies Aicardi-Goutieres syndrome (AGS) and chilblain lupus (Crow et al., 2006; Günther et al., 2013). Consistent with these scenarios in human, Trex1-deficient mice exhibit fatal inflammation and autoimmunity (Morita et al., 2004; Stetson et al., 2008).

  • Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies

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    More recently, a group of mendelian disorders due to mutations in genes involved in nucleic acid metabolism or PRR causing an excessive secretion of type I IFN has been classified as type I interferonopathies. Aicardi-Goutières syndrome (AGS) [15], STING-associated vasculopathy with onset in infancy (SAVI) [16], familial chilblain lupus [17], spondyloenchondrodysplasia (SPENCD) [18], proteasome-associated auto-inflammatory syndrome (PRAAS) [19] and Singleton-Merten syndrome (SMS) [20,21] are the main genetic type I interferonopathies described. Tetrasomy 9p is a very rare genetic disorder arising from a duplication of the short arm of the chromosome 9.

  • Familial chilblain lupus: Four cases spanning three generations

    2018, Annales de Dermatologie et de Venereologie
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Supported by grants from the Deutsche Forschungsgemeinschaft (GU1212/1-1 to PD Dr Günther and LE 1074/4-1 to Prof Dr Lee-Kirsch) and a MeDDrive grant 60322 from the Medical Faculty, Technical University Dresden (PD Dr Günther).

Conflicts of interest: None declared.

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