Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either TYROBP or TREM2. Despite the well-researched role of TREM2 and TYROBP/DAP12 in immunity, immunological phenotypes have never been reported in...

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Detalles Bibliográficos
Autores principales: Errichiello, Edoardo, Dardiotis, Efthimios, Mannino, Fiorenza, Paloneva, Juha, Mattina, Teresa, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664049/
https://www.ncbi.nlm.nih.gov/pubmed/31396216
http://dx.doi.org/10.3389/fimmu.2019.01685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664049/
https://www.ncbi.nlm.nih.gov/pubmed/31396216
http://dx.doi.org/10.3389/fimmu.2019.01685

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