Abstracts tagged "genetics and exome"

Abstract Number: 778 • 2019 ACR/ARP Annual Meeting
Multiple Genetic Diagnoses in a Cohort of Patients with Cryopyrin Associated Periodic Syndrome (CAPS)
Sofia Torreggiani¹, Megha Garg ², Sara Alehashemi ³, Kim johnson ¹, Jenna Wade ⁴, Lena Bichell ⁴, Magdalena Walkiewicz ⁵, Adriana de Jesus ⁶ and Raphaela Goldbach-Mansky ³, ¹Translational and Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ²Rochester Regional Health, Rochester, NY, ³Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, ⁵Division of Intramural Research (DIR)/NIAID/NIH, Bethesda, MD, ⁶Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD
Background/Purpose: Cryopyrin associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease caused by mutations in NLRP3. CAPS comprises 3 clinical phenotypes of increasing severity:…

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Abstracts tagged "genetics and exome"

Multiple Genetic Diagnoses in a Cohort of Patients with Cryopyrin Associated Periodic Syndrome (CAPS)