Edoardo Errichiello Efthimios Dardiotis Fiorenza Mannino Juha Paloneva Teresa Mattina Orsetta Zuffardi
10.3389/fimmu.2019.01685
Front Immunol
2019 Jul 23;10:1685.
nk cells nasu-hakola disease (nhd) trem2 tyrobp autoantibodies bone cysts microglia neurodegeneration
CC BY
https://pubmed.ncbi.nlm.nih.gov/31396216/
Killer Cells, Natural / immunology Lipodystrophy / immunology Neuroimmunomodulation / genetics Neuroimmunomodulation / immunology Osteochondrodysplasias / immunology Subacute Sclerosing Panencephalitis / immunology
Killer Cells, Natural / immunology Lipodystrophy / immunology Neuroimmunomodulation / genetics Neuroimmunomodulation / immunology Osteochondrodysplasias / immunology Subacute Sclerosing Panencephalitis / immunology Case Reports Adaptor Proteins, Signal Transducing / genetics Adult Female Humans Lipodystrophy / genetics Membrane Glycoproteins / genetics Membrane Proteins / genetics Mutation Osteochondrodysplasias / genetics Pedigree Phenotype Receptors, Immunologic / genetics Subacute Sclerosing Panencephalitis / genetics Adaptor Proteins, Signal Transducing Membrane Glycoproteins Membrane Proteins Receptors, Immunologic TREM2 protein, human TYROBP protein, human Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PMC6664049
31396216
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
2019