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• W4291184278 abstract "Abstract Background Systemic lupus erythematosus (SLE) is rarely diagnosed before 5-years-old. Those with disease onset at a very young age are predicted by a higher genetic risk and a more severe phenotype. We performed whole-exome sequencing to survey the genetic etiologies and clinical manifestations in patients fulfilling 2012 SLICC SLE classification criteria before the age of 5. Case presentation Among the 184 childhood-onset SLE patients regularly followed in a tertiary medical center in Taiwan, 7 cases (3.8%) of which onset ≦ 5 years of age were identified for characteristic review and genetic analysis. Compared to those onset at elder age, cases onset before the age of 5 are more likely to suffer from proliferative glomerulonephritis, renal thrombotic microangiopathy, neuropsychiatric disorder and failure to thrive. Causative genetic etiologies were identified in 3. In addition to the abundance of autoantibodies, patient with homozygous TREX1 (c.292_293 ins A) mutation presented with chilblain-like skin lesions, peripheral spasticity, endocrinopathy and experienced multiple invasive infections. Patient with SLC7A7 (c.625 + 1 G > A) mutation suffered from profound glomerulonephritis with full-house glomerular deposits as well as hyperammonemia, metabolic acidosis and episodic conscious disturbance. Two other cases harbored variants in lupus associating genes C1s , C2 , DNASE1 and DNASE1L3 and another with CFHR4. Despite fulfilling the classification criteria for lupus, many of the patients required treatments beyond conventional therapy. Conclusions Genetic etiologies and lupus mimickers were found among a substantial proportion of patients suspected with early-onset SLE. Detail clinical evaluation and genetic testing are important for tailored care and personalized treatment." @default.
• W4291184278 created "2022-08-13" @default.
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• W4291184278 date "2022-08-13" @default.
• W4291184278 modified "2023-10-13" @default.
• W4291184278 title "Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus" @default.
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• W4291184278 cites W1973376137 @default.
• W4291184278 cites W1982641566 @default.
• W4291184278 cites W1982983059 @default.
• W4291184278 cites W1986036781 @default.
• W4291184278 cites W1988674511 @default.
• W4291184278 cites W1993777863 @default.
• W4291184278 cites W1997125513 @default.
• W4291184278 cites W2000144743 @default.
• W4291184278 cites W2043959346 @default.
• W4291184278 cites W2054359284 @default.
• W4291184278 cites W2057539094 @default.
• W4291184278 cites W2077603061 @default.
• W4291184278 cites W2089507112 @default.
• W4291184278 cites W2107355198 @default.
• W4291184278 cites W2123761623 @default.
• W4291184278 cites W2134894647 @default.
• W4291184278 cites W2141547215 @default.
• W4291184278 cites W2158273955 @default.
• W4291184278 cites W2159860161 @default.
• W4291184278 cites W2161149451 @default.
• W4291184278 cites W2165544559 @default.
• W4291184278 cites W2171406118 @default.
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• W4291184278 cites W2213492109 @default.
• W4291184278 cites W2308362905 @default.
• W4291184278 cites W2346777800 @default.
• W4291184278 cites W2368984826 @default.
• W4291184278 cites W2418495086 @default.
• W4291184278 cites W2566791304 @default.
• W4291184278 cites W2571882907 @default.
• W4291184278 cites W2611434505 @default.
• W4291184278 cites W2754728827 @default.
• W4291184278 cites W2765712214 @default.
• W4291184278 cites W2884305526 @default.
• W4291184278 cites W2895338010 @default.
• W4291184278 cites W2898604762 @default.
• W4291184278 cites W2899501734 @default.
• W4291184278 cites W2902054717 @default.
• W4291184278 cites W2902991219 @default.
• W4291184278 cites W2910978847 @default.
• W4291184278 cites W2912471639 @default.
• W4291184278 cites W2939522196 @default.
• W4291184278 cites W2949273457 @default.
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• W4291184278 cites W2965798092 @default.
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• W4291184278 cites W2967918238 @default.
• W4291184278 cites W2969830288 @default.
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• W4291184278 cites W3129312412 @default.
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• W4291184278 doi "https://doi.org/10.1186/s12969-022-00722-6" @default.
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• W4291184278 hasPublicationYear "2022" @default.
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