Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

Abstract 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...

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Bibliographic Details
Main Authors: Lori B. Tucker, Lovro Lamot, Iwona Niemietz, Brian K. Chung, David A. Cabral, Kristin Houghton, Ross E. Petty, Kimberly A. Morishita, Gillian I. Rice, Stuart E. Turvey, William T. Gibson, Kelly L. Brown
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Autoinflammatory disease
Periodic fever syndrome
Macrophage activation syndrome
Type I interferon score
NLRP12
MEFV
Online Access:http://link.springer.com/article/10.1186/s12969-019-0374-x

Internet

http://link.springer.com/article/10.1186/s12969-019-0374-x

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