Correction:Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

In the original publication of the article, consortium author lists were missing in the article

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutie`res syndrome

Objective. Aicardi-Goutie`res syndrome (AGS) isan early-onset encephalopathy resembling congenitalviral infection that is characterized by basal gangliacalcifications, loss of white matter, cerebrospinal fluid(CSF) lymphocytosis, and elevated interferon- levels inthe CSF. Studies have shown that AGS is an autosomalrecessivedisease linked to mutations in 5 genes, encodingthe 3 -repair DNA exonuclease 1 (TREX1), the 3subunits of ribonuclease H2 (RNASEH2A–C), and sterilealpha motif domain and HD domain–containingprotein 1 (SAMHD1). In this study we further characterizedthe phenotypic spectrum of this disease.Methods. Clinical and laboratory data were obtainedfrom 26 patients fulfilling the clinical diagnosticcriteria for AGS. Genomic DNA was screened for mutationsin all 5 AGS genes by direct sequencing, and serawere analyzed for autoantibodies.Results. In 20 patients with AGS, 20 mutations,12 of which were novel, were identified in all 5 AGSgenes. Clinical and laboratory investigations revealed ahigh prevalence of features (some not previously describedin patients with AGS) that are commonly seen inpatients with systemic lupus erythematosus (SLE), suchas thrombocytopenia, leukocytopenia, antinuclear antibodies,erythematous lesions, oral ulcers, and arthritis,which were observed in 12 (60%) of 20 patients withAGS. Moreover, the coexistence of AGS and SLE, wasfor the first time, demonstrated in 2 patients withmolecularly proven AGS.Conclusion. These findings expand the phenotypicspectrum of lupus erythematosus in AGS andprovide further insight into its disease mechanisms by showing that activation of the innate immune system asa result of inherited defects in nucleic acid metabolismcould lead to systemic autoimmunity

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962