Neonatal detection of Aicardi Goutières syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots
T Armangue, JJ Orsini, A Takanohashi… - Molecular genetics and …, 2017 - Elsevier
Abstract Background Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy
associated with systemic autoinflammation causing interferon (IFN) elevation, central
nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant
with TREX1 mutations was recently found to have abnormal C26: 0 lysophosphatidylcholine
(C26: 0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy,
prompting analysis of this analyte in retrospectively collected samples from individuals …
associated with systemic autoinflammation causing interferon (IFN) elevation, central
nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant
with TREX1 mutations was recently found to have abnormal C26: 0 lysophosphatidylcholine
(C26: 0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy,
prompting analysis of this analyte in retrospectively collected samples from individuals …