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

• Main Authors: Magdalena Dziedzic (Author), Agata Marjańska (Author), Katarzyna Bąbol-Pokora (Author), Anna Urbańczyk (Author), Elżbieta Grześk (Author), Wojciech Młynarski (Author), Sylwia Kołtan (Author)
• Format: Book
• Published: BMC, 2017-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...