Table 1 Clinical characteristics and laboratory data of patients suspected with early-onset systemic lupus erythematosus
Cases | # 1 | # 2 | # 3 | # 4 | # 5 | # 6 | # 7 |
|---|---|---|---|---|---|---|---|
Gender | F | M | M | F | F | F | M |
Family history of SLE | no | yes | yes | no | no | no | no |
Age when cSLE suspected (mon) | 20 | 24 | 38 | 48 | 51 | 60 | 60 |
Age when WES performed (mon) | 21 | 27 | 46 | 50 | 101 | 96 | 103 |
Identified genetic variants | homozygous TREX1 (c.292_293 ins A) | SLC7A7 (c.625 + 1 G > A) | SLC7A7 (c.625 + 1 G > A) | DNASE1 (c.G370A),C1s (c.G1241), C2 (c.C1558T) | CFHR4 (c.T103C) | DNASE1L3 (c.G764A) | negative finding |
SLICC at diagnosis | |||||||
 Acute cutaneous lupus | - | - | - | - | - |  +  | - |
 Chronic cutaneous lupus |  +  | - | - | - |  +  | - | - |
 Oral or nasal ulcers | - | - | - |  +  | - |  +  |  +  |
 Nonscarring alopecia | - | - | - | - | - | - | - |
 Synovitis | - | - | - | - |  +  |  +  |  +  |
 Serositis | - | - | - |  +  | - | - | - |
 Renal | - | - |  +  LN IV |  +  LN IV |  +  LN IV |  +  LN IV |  +  LN IV |
 Neurologic |  +  | - | - | - | - | - | - |
 Hemolytic anemia |  +  | - | - |  +  |  +  | - | - |
 Leukopenia/ lymphopenia | - |  +  | - | - | - | - | - |
 Thrombocytopenia |  +  |  +  | - |  +  | - | - | - |
 Positive ANA |  +  | - |  +  |  +  |  +  |  +  |  +  |
 Positive anti-dsDNA | - |  +  |  +  | - |  +  |  +  |  +  |
 Positive anti-Sm |  +  | NA |  +  |  +  | - |  +  | NA |
 Positive APL |  +  | NA | NA |  +  | - | - | - |
 Low complement level | - |  +  |  +  |  +  |  +  |  +  |  +  |
 Positive direct Coombs test | - | NA | - | - | - |  +  |  +  |
Initial Laboratory data | |||||||
 White blood cells (/μl) [RR: 4000–11000] | 7600 | 4400 | 4300 | 4500 | 4400 | 7200 | 6000 |
 Lymphocytes (/μl) [RR: 1000—4000] | 1800 | 900 | 1500 | 2000 | 2200 | 2100 | 1500 |
 Hemoglobin (g/dl) [RR: 12—18] | 8.5 | 12.2 | 11.2 | 9.4 | 7.2 | 13 | 15.3 |
 Platelets (K/μl) [RR: 150—400] | 94 | 95 | 200 | 34 | 239 | 430 | 248 |
 anti-dsDNA Ab (unit/ml) [RR: < 139] | 104 | 140.5 | 176.6 | 49.5 | 714 | 615.5 |  > 2000 |
 C3 (mg/dL) [RR: 90—180] | 102 | 127 | 44.8 | 72 | 30.9 | 26.7 | 21.2 |
 C4 (mg/dL) [RR: 10—40] | 13.4 | 8.3 | 5.32 | 15.7 | 6.16 | 3.33 | 5.43 |
 ANA [RR: 1:80 negative] | 1:320 | - | 1:80 | 1:160 | 1:320 | 1:160 | 1:1280 |
 Proteinuria [RR: 0] | 0 | 1 +  | 4 +  | 4 +  | 2 +  | 4 +  | 2 +  |
 Hematuria [RR: 0] | 0 | 0 | 3 +  | 3 +  | 3 +  | 3 +  | Trace |
Symptoms and comorbidities | |||||||
 Growth and development | FTT, developmental delay | - | FTT | - | FTT | - | - |
 CNS | conscious disturbance, encephalopathy with leukodystrophy | episodic conscious disturbance | episodic conscious disturbance | seizure with posterior reversible encephalopathy syndrome | - | - | - |
 Cardiovascular | patent foramen ovale, trivial tricuspid regurgitation | - | - | hypertension | hypertension | hypertension | hypertension |
 Gastrointestinal | gastroesophageal reflux, raise of hepatic enzyme | Hepatosplenomegaly, emesis | Hepatosplenomegaly, emesis | ascites | necrotizing pancreatitis with pancreatic pseudocysts | - | moderate hepatomegaly |
 Renal | - | - | GN | GN, TMA | GN, TMA | GN | GN |
 Metabolic | autoimmune thyroiditis with subclinical hypothyroidism, insulin-dependent diabetes mellitus | metabolic acidosis, hyperammonemia | metabolic acidosis, hyperammonemia | - | dyslipidemia | - | dyslipidemia |
 Mucocutaneous | chilblain-like skin rash | - | - | oral ulcer | discoid rash | oral ulcer, malar rash | oral ulcer |
 Musculoskeletal | Spastic quadriplegic cerebral palsy | - | delayed bone age | - | arthritis over bilateral knees | arthritis over bilateral ankles and knees | arthritis over bilateral knees |
 Serology | ANA, anti-Sm, anti-RNP, anti-Ro, anti-La, ANCA and APL Ab | anti-dsDNA, anti-Ro, low complement | ANA, anti-dsDNA, anti-Sm, and low complement | ANA, anti-Sm, APL and low complement | ANA, anti-dsDNA, anti-Ro and low complement | ANA, anti-dsDNA, anti-Sm, anti-Ro and low complement | ANA, anti-dsDNA, anti-Ro, APL and low complement |
 Invasive infections | recurrent aspiration pneumonia, P. aeruginosa pneumonia, Salmonella sepsis and K. pneumonia pyelonephritis | S. aureus bacteremia, M. catarrhalis pneumonia | - | - | Salmonella sepsis, C. albicans bacteremia, bacterial peritonitis | - | - |
Treatment | |||||||
 Prednisolone | tapering dose from 3.5 mg/day × 1 mon | tapering dose from 2.5 mg/day × 3 mons | tapering dose from 20 mg/day × 15 mons | tapering dose from 60 mg/day × 5 yrs | steroid pulse + tapering dose from 60 mg/day until now | steroid pulse + tapering dose from 60 mg/day until now | steroid pulse + tapering dose from 60 mg/day until now |
 Cyclophosphamide | - | - | - | - | 0.5-1 g/m2 monthly × 5 doses | 0.5-1 g/m2 monthly × 12 doses | 0.5-1 g/m2 monthly × 12 doses |
 Azathioprine | - | - | - | - | - | - | 50 mg/day × 2 mons |
 Cyclosporin | - | - | - | 25–50 mg/day | 100–150 mg/day | 100–200 mg/day | - |
 MMF/MPA | - | - | - | MMF 500- 750 mg/day | MPA 360–1440 mg/day | MMF 500- 1500 mg/day | MPA 540–1440 mg/day |
 Hydroxychloroquine | - | - | - | - | 100–200 mg/day | 100–200 mg/day | 100–200 mg/day |
 Other treatments | thyroxine, insulin | neomycin sulfate, sodium benzoate, multivitamins, lactulose | neomycin sulfate, sodium benzoate, multivitamins, lactulose | plasma exchange, captopril, amlodipine, clonidine | plasma exchange, captopril, losartan, atorvastatin | amlodipine | amlodipine, losartan |