…rt to a more comprehensive version. In 2013, we finally released the first comprehensive comparative chart of autoinflammatory diseases and distributed copies to doctors from around the world at the 7th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases where it was part of the poster sessions presentation and thousands more of the most recent version of the chart at the 2013 American College of Rheumatology Annual Me…
Continue reading…c testing panels only test for mutations in certain exons, or for the more common areas for these diseases, so uncommon, or unknown mutations could be missed. With some forms of CAPS, the older standard genetic testing did not identify mutations in around 40% of cases–often in the most severe form of CAPS, known as NOMID/CINCA. These patients had all the clinical findings, labs and symptoms of NOMID, but were previously called “mutation negative.”…
Continue reading…r process for transitioning patients from pediatric to adult care. https://www.youtube.com/embed/TQbItYSGlWw Make sure to also read Alex’s story from the NIH Director’s Blog Meet Alex-Before and After NIH Trial” as his family were some of the first sharing info and helping families online that were seeking information about NOMID/CINCA. They helped so many of us to find others, and the NIH, and inspired us to start our organization too. Read Alex’…
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