China
Africa
Explore chapters and articles related to this topic
Systemic Lupus Erythematosus
Published in Jason Liebowitz, Philip Seo, David Hellmann, Michael Zeide, Clinical Innovation in Rheumatology, 2023
Vaneet K. Sandhu, Neha V. Chiruvolu, Daniel J. Wallace
Mutations in genes involved in nucleic acid sensing and metabolism can lead to accumulation of genetic material in the cytoplasm, thus triggering IFN-1 expression. Some genes that have been identified to be involved in this process include RNASEH2B (A,C), ADAR, IFIH1, TREX1, and SAMHD1.50 Furthermore, genetic defects in nuclear acid degradation have similarly been implicated via the genes DNASE1 and DNASE1L3.50, 80
Aicardi Syndrome and Klinefelter Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Aicardi syndrome is unrelated to Aicardi−Goutières syndrome (AGS), which is an autosomal recessive disorder characterized by early-onset encephalopathy, intellectual and physical handicap, calcification of the basal ganglia (particularly the putamen, globus pallidus, thalamus), leukodystrophy, cerebral atrophy, chronic cerebrospinal fluid (CSF) leukocytosis, and increased concentration of interferon-alpha in the CSF. At the genetic level, AGS is linked to variations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes [2].
Novel and emerging treatments for Aicardi-Goutières syndrome
Published in Expert Review of Clinical Immunology, 2020
Davide Tonduti, Elisa Fazzi, Raffaele Badolato, Simona Orcesi
AGS is a genetically heterogeneous disease: seven different causative genes (AGS1-7) have been identified, each encoding a distinct protein involved in nucleic acid metabolism or sensing. These proteins (and their associated genes) are: a DNA exonuclease (TREX1), the non-allelic components of the RNASEH2 endonuclease complex (RNASEH2A, RNASEH2B, RNASEH2C), deoxynucleoside triphosphate triphosphohydrolase (SAMHD1), adenosine deaminase 1 (ADAR1), and the cytosolic dsRNA sensor MDA5 (IFIH1) [4]. Impaired function of any of these protein will ultimately lead to an abnormal interferon (IFN) response with chronic overproduction of type I IFN.
Primary Immunodeficiency and Thrombocytopenia
Published in International Reviews of Immunology, 2022
Maryam Mohtashami, Azadehsadat Razavi, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani
Also, in Aicardi-Goutieres syndrome (AGS), gene mutations (in TREX1, RNASEH2A, RNASEH2B and RNASEH2C) contribute to either the inappropriate immune system activation or accumulation of DNA and RNA. Note that the latter form stimulates inflammasomes and inflammation [213]. As stated, under infections and inflammation circumstances, infection-induced ITP may contribute to thrombocytopenia in AGS and ADA2 deficiency [14, 15, 19, 20, 129, 214].