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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
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Pediatric Rheumatology

ISSN: 1546-0096