Article
Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.
Pediatric rheumatology online journal - 28 Oct 2019
Tucker Lori B, Lamot Lovro, Niemietz Iwona, Chung Brian K, Cabral David A, Houghton Kristin, Petty Ross E, Morishita Kimberly A, Rice Gillian I, Turvey Stuart E, Gibson William T, Brown Kelly L
Abstract excerpt
BACKGROUND: Despite recent advances in the diagnosis and understanding of many autoinflammatory diseases, there are still a great number of patients with phenotypes that do not fit any clinically- and/or genetically-defined disorders. CASE PRESENTATION: We describe a fourteen-year-old boy who presented at two and a half years of age with recurrent febrile episodes. Over the course of the disease, the episodes...
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