Clinical characteristics of two male patients with SLE with one confirmed for carrying a rare TLR7 variant
| Patients | TLR7 mutation | Allele frequency (gnomAD) | Mutation effect (SIFT) | Mutation effect CADD (MSC) | Variant effect predictor score | Current age | Age at onset | Autoimmune manifestation | Other |
|---|---|---|---|---|---|---|---|---|---|
| II.1 | | | | | | 29 years (deceased) | 1 year | SLE and autoimmune hemolytic anemia | Cerebrovascular accident |
| II.2 | c.2519T > G p.L840R | Not present | Deleterious (0.01) | Deleterious 22.5 (16.3) | Likely pathogenic 0.599 | 22 years | 3 years | SLE, ITP, and cervical lymphadenopathy | Iron deficiency anemia |
| Patients | TLR7 mutation | Allele frequency (gnomAD) | Mutation effect (SIFT) | Mutation effect CADD (MSC) | Variant effect predictor score | Current age | Age at onset | Autoimmune manifestation | Other |
|---|---|---|---|---|---|---|---|---|---|
| II.1 | | | | | | 29 years (deceased) | 1 year | SLE and autoimmune hemolytic anemia | Cerebrovascular accident |
| II.2 | c.2519T > G p.L840R | Not present | Deleterious (0.01) | Deleterious 22.5 (16.3) | Likely pathogenic 0.599 | 22 years | 3 years | SLE, ITP, and cervical lymphadenopathy | Iron deficiency anemia |
MSC, mutation significance cutoff.
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