…sterol and isoprenoid metabolism. The autoinflammatory diseases hyper-IgD (HIDS) and mevalonate aciduria (MA), both mevalonate kinase deficiency diseases, are conditions that involved cholesterol production. The studies will lead to better understanding of these diseases, which should then lead to better treatment. If you or your child have been diagnosed with HIDS or MA, you can register with the STAIR Registry to be contacted about studies you o…
Continue reading…n: No mutation found/undifferentiated – 66% FMF – 21% TRAPS – 6% CAPS – 4% HIDS – 1% DIRA – 1% Polygenic – 1% Crohn’s Disease, PAPA, and Blau Syndrome – 0% (a handful of patients) Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, Still’s-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) This study is led by Dr. Raphaela T. Goldbach-Mansky. Dr. Goldbach-Mansky and her team have hel…
Continue reading…ther labs and symptoms for a diagnosis. For instance, 80% of patients with HIDS may have elevated IgD, often with IgA, but 20% do not. Young infants and children with HIDS may not show elevations in these labs until they are older. Our comparative chart has information about what Ig lab findings are often seen with each disease. ANA This is an antibody test. A high positive would indicate an autoimmune condition. By definition autoinflammatory con…
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