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Table 2 Diseases associated with TREX1

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

Disease Inheritance Clinical manifestation Treatment
Aicardi-Goutières syndrome 1 (AGS1) AD/AR Progressive encephalopathy, developmental delay, deformity, foot bun, frostbite, purpura NSAIDs, JAK inhibitor, reverse-transcriptase inhibitors
Familial chilblain lupus (FCL) AD/AR Painful blue-red papules or nodules (finger, toes, nose, cheeks, ears), skin ulcers after exposure to cold and wet Hydroxychloroquine, corticosteroids, cyclophosphamide, mycophenolate mofetil, JAK inhibitor
Vasculopathy, retinal, with cerebral leukodystrophy AD Retinal vasculopathy, Raynaud phenomenon, CNS degradation Corticosteroids, NSAIDs, clopidogrel, heparin, levetiracetam
Systemic lupus erythematosus, susceptibility to AD Fatigue, fever, arthritis, mucocutaneous manifastations, renal, hematologic, CNS involvement and other systemic involvement Hydroxychloroquine, NSAIDs, corticosteroids, methotrexate
  1. Abbreviations: AD autosomal dominant; AGS Aicardi-Goutières syndrome; AR autosomal recessive; FCL familial chilblain lupus; JAK Janus-kinases; NSAIDs nonsteroidal anti-inflammatory drugs