Table 3.
Characteristics of the eight cases diagnosed as interferonopathies.
| Case | Clinical presentation | Age onset | Genetics | Diagnosis | Inheritance | Intervention |
|---|---|---|---|---|---|---|
| 1 | Rash, growth retardation, intracranial calcification | 1y | TREX1, c.505C>T, p.R169C; c.900delA, p.S301Lfs*31 | AGS1 | AR | Prednisone DMARD |
| 2 | Rash, glaucoma, intracranial calcification, lupus | 3y |
TREX1, c.139G>A, p.G47S c.458dupA p.C154Mfs*3 |
AGS1 | AR | JAK inhibitor |
| 3 | Rash, mixed connective tissue disease, ILD | 3y |
TREX1, c.65C>T, p.T22M |
AGS1 | AD | JAK inhibitor |
| 4 | Lupus, rash, arthritis, PAH, intracranial calcification | 3y | ADAR1, c.305_306del, p.Q102Rfs*22 | AGS6 | AD | Prednisone DMARD |
| 5 | Growth retardation, rash, intracranial calcification, leukopenia | 6m |
IFIH1, c.1016C>A, p.A339D |
AGS7 | AD | JAK inhibitor |
| 6 | Rash, growth retardation, PAH, ILD | 1m |
TMEM173
c.463G>A, p.V155M |
SAVI | AD | JAK inhibitor |
| 7 | Fever, bone dysplasia, nervous system problems, autoimmune disease | 2y |
ACP5
c.798duC, p.S267Lfs*20; c.716G>A, p.G239D |
SPENCD | AR | JAK inhibitor |
| 8 | Fever, rash, PAH, lipodystrophy, arthropathy, intracranial calcification, growth retardation | 7m |
PSMB8
c.224C>T, p.T75M; c.221C>T, p.T74I |
PRAAS | AR | Death prior to treatment |
AD, autosomal dominant; AGS, Aicardi Goutieres syndrome; AR, autosomal recessive; ILD, interstitial lung disease; PAH, pulmonary artery hypertention; PRAAS, proteasome-associated autoinflammatory syndrome; SAVI, STING associated vasculopathy with onset in infancy; SPENCD, spondyloenchondrodysplasia with immune dysregulation.