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Table 2 Summary of families previously reported with Familial Chilblain Lupus based on mutation in TREX1

From: Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome

EthnicNo. of patientsAge of onsetModes of inheritanceMutationClinical manifestations (No. of patients)Immunologic findingsSkin biopsy findings (No. of patients)References
Turkey22.5ARp.Arg114CysSkin lessions (2)
Cerebral vasculopathy (1)
Positive: free protein C was mildly reduced
Negative: C3,ANA, dsDNA, CryoG, CryoF, anticardiolipin antibodies, Antithrombin III, protein S and homocysteine levels
Germany182.3ADp.Asp18AsnSkin lessions (18)
Arthritis (4)
Positive: ANA
Negative: RF, Cold agg,CryoG, CryoF, anticardiolipin antibodies
Consistent with LE(3)2, 4
Japan5early childhoodADp.Asp18AsnSkin lessions (5)
Cerebral vasculopathy (1)
subarachnoid hemorrhage (1)
Positive: ANA, an increased interleukin-6 of cerebrospinal fluid
Negative: anticardiolipin antibodies,CryoG, Antithrombin III, protein, homocysteine levels and free protein C was mildly reduced
Small vessel angitis(1)5
Germany4childhoodADp.His195GlnSkin lessions (4)
Arthritis (3)
thrombocytopenia (3)
lymphocytopenia (3)
Positive: ANA 1:160
Negative: C3, RF, CCP
Consistent with LE(2)6
Bangladeshi43ADc.375dupTSkin lessions (3)
Arthritis (2)
Positive: ANA1:1000
Negative:RF,C3,ENA, CryoG, CryoF, anticardiolipin antibodies,
Japan10Early ChildhoodADp.Asp18AsnSkin lessions (10)NANA8
Germany4ChildhoodADp.Asp18AsnSkin lessions (4)
photosensitive rash (1)
Positive: ANA 1:80
Negative: C3, CryoG,
Consistent with LE(1)9
Japan6early childhoodADp.Pro132AlaSkin lessions (6)Positive: ANA 1:80
Negative: C3, dsDNA
Consistent with LE(1)10
Germany3childhoodADp.Asp18AsnSkin lessions (3)
Arthritis (1)
Leukopenia, animia, thrombocytopenia (1)
Positive: ANA 1:160, elevated of immuno-globulin G
Negative: ENA, anticardiolipin antibodies,CryoG,
Consistent with LE(1)11
China13early childhoodADp.Asp18HisSkin lessions (13)
Arthritis (4)
Negative: CCP, RF, ANA, ENA, C3,anticardiolipin antibodie, cold agg,
Consistent with LE(1)Present case
  1. ANA anti-nuclear antibody, Cold agg cold agglutinin, CryoG cryoglobulin, CryoF cryofibrinogen, dsDNA double-stranded DNA, RF rheumatic Factor, C3 complement 3, LE lupus erythematosus, ENA antibodies of extractable nuclear antigens, CCP cyclic citrullinated peptide, NA not analyzed, AR autosomal recessive, AD autosomal dominant