Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
The Journal of Clinical Investigation, 2023 Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
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Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]
, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak +14 more
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Insights into mucosal associated invariant T cell biology from human inborn errors of immunity [PDF]
, 2022 Lauren J. Howson, Vanessa L. Bryant
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Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
Cytosolic Phospholipase A2α and Eicosanoids Regulate Expression of Genes in Macrophages Involved in Host Defense and Inflammation [PDF]
, 2013 Acknowledgments: We thank Dr. Robert Barkley and Charis Uhlson for mass spectrometry analysis. Funding: This work was supported by grants from the National Institutes of Health HL34303 (to C.C.L., R.C.M. and D.L.B), DK54741 (to J.V.B.), GM5322 (to D.L.W.)
Bonventre, Joseph V. +9 more
core +3 more sources
European Eating Disorders Review, EarlyView.ABSTRACT Background Eating disorders are debilitating illnesses that often co‐occur with other psychiatric disorders and somatic diseases. Evidence indicates that the incidence of eating disorders has been increasing. We first examine the landscape of EDs over time, including the COVID‐19 period, via assessing the incidence of anorexia nervosa (AN ...
Nadia Micali +4 more
wiley +1 more source
ISG15 protects human Tregs from interferon alpha‐induced contraction in a cell‐intrinsic fashion
Clinical & Translational Immunology, 2020 Objectives Type I interferons (IFNs) inhibit regulatory T‐cell (Treg) expansion and activation, making them beneficial in antiviral responses, but detrimental in autoimmune diseases.
Ilenia Pacella +14 more
doaj +1 more source
TYK2-induced phosphorylation of Y640 suppresses STAT3 transcriptional activity [PDF]
, 2017 STAT3 is a pleiotropic transcription factor involved in homeostatic and host defense processes in the human body. It is activated by numerous cytokines and growth factors and generates a series of cellular effects.
De Bosscher, Karolien +7 more
core +3 more sources
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing [PDF]
, 2023 Soon Sung Kwon +9 more
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T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity [PDF]
, 2021 Su Han Lum +19 more
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