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

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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Bibliographic Details
Main Authors: Edoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, Juha Paloneva, Teresa Mattina, Orsetta Zuffardi
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Immunology
Subjects:
Nasu-Hakola disease (NHD)
TREM2
TYROBP
NK cells
autoantibodies
microglia
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.01685/full

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https://www.frontiersin.org/article/10.3389/fimmu.2019.01685/full

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