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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Detalles Bibliográficos
Autores principales: Dziedzic, Magdalena, Marjańska, Agata, Bąbol-Pokora, Katarzyna, Urbańczyk, Anna, Grześk, Elżbieta, Młynarski, Wojciech, Kołtan, Sylwia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531019/
https://www.ncbi.nlm.nih.gov/pubmed/28750667
http://dx.doi.org/10.1186/s12969-017-0188-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531019/
https://www.ncbi.nlm.nih.gov/pubmed/28750667
http://dx.doi.org/10.1186/s12969-017-0188-7

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