NLRC4-Associated Macrophage Activation Syndrome-Like Illness

This disease is caused by an NLRC4 genetic mutation that leads to the patient having serious flares of symptoms that are similar to, or a form of a macrophage activation syndrome (MAS). Of note, these patients not only have the fevers, and a MAS-like disease, but significant and life threatening gastrointestinal inflammation from early infancy onward. In macrophage activation syndrome, macrophages, a type of white blood cell, become…

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

At 6 months old Olivia had spent most of her life in the hospital. But this day was a day to celebrate as she was well enough to go outside for the first time in 4 months! The following was written by Jill DiStefano, Olivia’s mom. Olivia was the 4th person diagnosed with NLRC4 macrophage activation-like syndrome (NLRC4-MAS), a type of periodic fever syndrome. This is Olivia’s story and how we came to find out about her NLRC4

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Disease Specific Info

There are a growing number of autoinflammatory diseases, and many have been discovered, or classified in the past few decades. However, patients have likely been suffering with these diseases for centuries. In the past, many of these diseases were referred to as Hereditary Periodic Fever Syndromes.This is a basic overview of these diseases. In most cases, autoinflammatory diseases are caused by genetic mutations (or misspellings) in molecules…

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