Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Abstract Background Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis...

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Bibliographic Details
Main Authors: Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Blau syndrome
NAID
Autoinflammatory disease
Online Access:http://link.springer.com/article/10.1186/s12969-017-0188-7

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