Characteristics and treatment of pediatric patients with early-onset systemic lupus erythematosus (SLE).
| Variables | Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | Pt 6 | Pt 7 |
|---|---|---|---|---|---|---|---|
| Consanguinity | 3° | From the same village | 1° | 1° | 1° | From the same village | 1° |
| SLE in sibling | Yes | Yes | No | No | Yes | No | No |
| Gene | C1QA | C1QC | C1QC | C1QA | C1S | DNASE1L3 | HDAC7 |
| Mutation | p.Gln208Ter (c.622C>T) | p.Gln27Ter (c.79C>T) | p.Gly34Arg (c.100G>A) | p.Gln208Ter (c.622C>T) | p.Ala649Pro (c.1945G>C) | p.Thr97Ilefs*2 (c.289_290delAC) | p.Arg55Trp (c.163C>T) |
| Mutation detection method | WES | WES | WES | Sanger | WES | WES | WES |
| Reported (ref. no.) | Known (10) | Novel | Known (11) | Known (10) | Novel | Known (9) | Novel |
| Age at symptom onset, mos | 6 | 36 | 30 | 54 | 15 | 24 | 60 |
| Malar rash | + | + | + | + | + | + | + |
| Discoid rash | + | + | + | + | + | — | — |
| Other type of rash | Vasculitis rash on extremities | — | — | — | — | Maculopapular rash | — |
| Oral ulcers | + | + | + | — | + | — | + |
| Photosensitivity | + | + | + | + | — | + | + |
| Arthritis | + | + | — | — | + | + | — |
| Pleuritis | — | — | — | — | — | — | — |
| Pericarditis | — | — | — | — | — | — | — |
| Nephritis | — | — | — | — | + | + | + |
| Neurologic involvement | — | + | — | — | — | — | + |
| Other features | — | — | — | — | Pancreatitis | Scleritis, pulmonary involvement | — |
| Treatment | CS, HQ, MTX, FFP | CS, HQ, AZA, FFP | CS, HQ, MTX, FFP | CS, AZA, HQ, FFP | CS, HQ, CYC, AZA, FFP | CS, HQ, CYC, MMF, MTX, AZA | CS, HQ, CYC, MMF, AZA, IVIG, aspirin |
| Most recent SLICC/ACR damage index | 0 | 1 | 0 | 0 | 0 | 1 | 1 |
ACR: American College of Rheumatology; AZA: azathioprine; CS: corticosteroid; CYC: cyclophosphamide; FFP: fresh frozen plasma; HQ: hydroxychloroquine; IVIG: intravenous immunoglobulin; MMF: mycophenolate mofetil; MTX: methotrexate; SLICC: Systemic Lupus International Collaborating Clinics; WES: whole exome sequencing.