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Table 1 The main types of type I interferonopathies and their causative genes

From: Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

Disease Gene
Aicardi-Goutières syndrome (AGS) TREX1, RNASEH2A, RNASEH2B,
RNASEH2C, SAMHD1, ADAR1, IFIH1
Retinal vasculopathy with cerebral leukodystrophy TREX1
Familial chilblain lupus (FCL) TREX1, SAMHD1, STING
Systemic lupus erythematosus TREX1, RNASEH2A-C, ACP5, DNASE1, DNASE1L3, C1QA-C, C4
STING-associated vasculopathy, infantile-onset STING
Singleton-Merten syndrome IFIH1, RIGI
Spondyloenchrondrodysplasia ACP5
ISG15 deficiency ISG15
USP18 deficiency USP18
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature PSMB8, PSMB4, PSMA3, PSMB9, POMP
X-linked reticulate pigmentary disorder POLA1
Panarteritis nodosa, childhood-onset CECR1
  1. Abbreviations: AGS Aicardi-Goutières syndrome; FCL familial chilblain lupus