Embark on a journey of knowledge! Take the quiz and earn valuable credits.
Challenge yourself and boost your learning! Start the quiz now to earn credits.
Unlock your potential! Begin the quiz, answer questions, and accumulate credits along the way.
Embark on a journey of knowledge! Take the quiz and earn valuable credits.
Challenge yourself and boost your learning! Start the quiz now to earn credits.
Unlock your potential! Begin the quiz, answer questions, and accumulate credits along the way.
+10 pts
What is Aicardi–Goutieres syndrome mean?
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001.
AGS can occur due to mutations in any one of a number of different genes, of which seven have been identified to date, namely: TREX1, RNASEH2A, RNASEH2B, RNASEH2C (which together encode the Ribonuclease H2 enzyme complex), SAMHD1, ADAR1, and IFIH1 (coding for MDA5). This neurological disease occurs in all populations worldwide, although it is almost certainly under-diagnosed. To date (2014) at least 400 cases of AGS are known.
referencePosted on 25 Oct 2024, this text provides information on Miscellaneous in Medical related to Medical. Please note that while accuracy is prioritized, the data presented might not be entirely correct or up-to-date. This information is offered for general knowledge and informational purposes only, and should not be considered as a substitute for professional advice.
Turn Your Knowledge into Earnings.
Ever curious about what that abbreviation stands for? fullforms has got them all listed out for you to explore. Simply,Choose a subject/topic and get started on a self-paced learning journey in a world of fullforms.
OPEN APP
Click "Allow Notifications" in Your Browser to Access Quiz and Earn Rewards! 🚀
Write Your Comments or Explanations to Help Others