Aicardi-goutieres Syndrome
What's New
Last Posted: Mar 07, 2023
- Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
Haskell Gloria T, et al. Cold Spring Harbor molecular case studies 2018 0 (5) - Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau Jessica, et al. Journal of clinical medicine 2019 0 (5) - Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
Pillalamarri Vamsee, et al. HGG advances 2022 0 (1) 100147 - DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau Maud, et al. Journal of clinical immunology 2022 0 (6) 1310-1320 - SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations.
Franzolin Elisa, et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2020 0 (1) 631-647 - Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar Runjun D, et al. American journal of medical genetics. Part A 2022 9 - Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Carneiro-Sampaio Magda et al. Frontiers in pediatrics 2022 10891343 - TREX1 variants in Sjogren's syndrome related lymphomagenesis.
Nezos Adrianos, et al. Cytokine 2019 7 154781 - Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer Ulrike, et al. Acta neuropathologica 2017 10 - Typing TREX1 gene in patients with systemic lupus erythematosus.
Fredi M, et al. Reumatismo 2015 0 (1) 1-7
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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