The balance between a protective and a destructive immune response can be precarious,
as exemplified by inborn errors in nucleotide metabolism. This class of inherited disorders …

Growing interest in therapeutic development for rare diseases necessitate a systematic
approach to the collection and curation of natural history data that can be applied …

The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically
characterized by severe neurological involvement. AGS is considered an immune-mediated …

Systemic lupus erythematosus (SLE) is a rare autoimmune/inflammatory disease with
significant morbidity and mortality. Approximately 15–20% of SLE patients develop the …

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …

Aicardi‐Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by
pathogenic mutations in genes controlling cellular anti‐viral responses and nucleic acid …

Abstract Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease
characterized by increased expression of interferon-stimulated genes (ISGs). Disease …

Abstract Objective Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy
associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS …

Abstract Objective Aicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy
associated with diverse multisystemic complications. A critical gap exists in our …

Highlights•A-to-I RNA editing in hematopoietic cells is dynamic and cell type–
specific.•ADAR1 mediated A-to-I editing is essential for normal murine hematopoiesis.• …