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

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. Clinic...

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Detaylı Bibliyografya
Yayımlandı:Pediatr Rheumatol Online J
Asıl Yazarlar: Dziedzic, Magdalena, Marjańska, Agata, Bąbol-Pokora, Katarzyna, Urbańczyk, Anna, Grześk, Elżbieta, Młynarski, Wojciech, Kołtan, Sylwia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5531019/
https://ncbi.nlm.nih.gov/pubmed/28750667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-017-0188-7
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