Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

BACKGROUND: Blau syndrome (BS) is a rare autoinflammatory disorder with NOD2 gain-of-function mutation and characterized by autoactivation of the NFκB pathway. Classically considered a disease of high penetrance, reports on NOD2 mutations underlining BS with incomplete penetrance is limited. CASE PR...

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Detalles Bibliográficos
Autores principales: Chang, Shao-Yu, Kambe, Naotomo, Fan, Wen-Lang, Huang, Jing-Long, Lee, Wen-I, Wu, Chao-Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531522/
https://www.ncbi.nlm.nih.gov/pubmed/36192768
http://dx.doi.org/10.1186/s12969-022-00743-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531522/
https://www.ncbi.nlm.nih.gov/pubmed/36192768
http://dx.doi.org/10.1186/s12969-022-00743-1

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