NLRC4-Associated Macrophage Activation Syndrome-Like Illness

…oday: New inflammatory diseases seen. Nature Genetics letter:An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nature Genetics letter:Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation NIAMS Research brief September 2014:Gene Linked to Potentially Life-Threatening Autoinflammatory Disorder SickKids Toronto Newsroom: Genetic testing uncovers unknown autoinflammato…

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This is Baby Olivia’s Story – The 4th Person in the World with a Newly Discovered Autoinflammatory Disease

…w that we have a diagnosis, we can start treatment. She was diagnosed with NLRC4-MAS! NLRC4-MAS is a genetic condition she was born with. There are medications that have been helpful in other patients with NLRC4-MAS so we now have hope that Olivia will now get to live a healthy life. August 2015 Update: It’s been a bumpy road for Olivia since her mom sent us this post. But we are very happy to report that her treatment is working and they are plan…

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Disease Specific Info

…sorder–aka H. Syndrome; Pigmented Hypertrichosis w/IDDM; Faisalabad Histiocytosis & Sinus Histiocytosis w/Massive Lymphadenopathy) Deficiency of Adenosine Deaminase 2 (DADA2)–aka Fever w/ Early Onset Stroke (FEOS) NLRC4-MAS: NLRC4-associated autoinflammatory disease with recurrent fevers and MAS-like symptoms Sweet’s Syndrome Plus Unclassified, Undifferentiated, or still being discovered autoinflammatory diseases…

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