Table 2.
Summary of families previously reported with Familial Chilblain Lupus based on mutation in TREX1
| Ethnic | No. of patients | Age of onset | Modes of inheritance | Mutation | Clinical manifestations (No. of patients) | Immunologic findings | Skin biopsy findings (No. of patients) | References |
|---|---|---|---|---|---|---|---|---|
| Turkey | 2 | 2.5 | AR | p.Arg114Cys |
Skin 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 |
NA | 3 |
| Germany | 18 | 2.3 | AD | p.Asp18Asn |
Skin lessions (18) Arthritis (4) |
Positive: ANA Negative: RF, Cold agg,CryoG, CryoF, anticardiolipin antibodies |
Consistent with LE(3) | 2, 4 |
| Japan | 5 | early childhood | AD | p.Asp18Asn |
Skin 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 |
| Germany | 4 | childhood | AD | p.His195Gln |
Skin lessions (4) Arthritis (3) thrombocytopenia (3) lymphocytopenia (3) |
Positive: ANA 1:160 Negative: C3, RF, CCP |
Consistent with LE(2) | 6 |
| Bangladeshi | 4 | 3 | AD | c.375dupT |
Skin lessions (3) Arthritis (2) |
Positive: ANA1:1000 Negative:RF,C3,ENA, CryoG, CryoF, anticardiolipin antibodies, |
NA | 7 |
| Japan | 10 | Early Childhood | AD | p.Asp18Asn | Skin lessions (10) | NA | NA | 8 |
| Germany | 4 | Childhood | AD | p.Asp18Asn |
Skin lessions (4) photosensitive rash (1) |
Positive: ANA 1:80 Negative: C3, CryoG, |
Consistent with LE(1) | 9 |
| Japan | 6 | early childhood | AD | p.Pro132Ala | Skin lessions (6) |
Positive: ANA 1:80 Negative: C3, dsDNA |
Consistent with LE(1) | 10 |
| Germany | 3 | childhood | AD | p.Asp18Asn |
Skin 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 |
| China | 13 | early childhood | AD | p.Asp18His |
Skin lessions (13) Arthritis (4) |
Positive: Negative: CCP, RF, ANA, ENA, C3,anticardiolipin antibodie, cold agg, |
Consistent with LE(1) | Present case |
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