Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Mutations in several proteins functioning as endolysosomal components cause monogenic autoimmune diseases, of which pathogenesis is linked to increased endoplasmic reticulum stress, inefficient autophagy, and defective recycling of immune receptors. We report here a heterozygous TOM1 p.G307D missens...

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Detalles Bibliográficos
Autores principales: Keskitalo, Salla, Haapaniemi, Emma M., Glumoff, Virpi, Liu, Xiaonan, Lehtinen, Ville, Fogarty, Christopher, Rajala, Hanna, Chiang, Samuel C., Mustjoki, Satu, Kovanen, Panu, Lohi, Jouko, Bryceson, Yenan T., Seppänen, Mikko, Kere, Juha, Heiskanen, Kaarina, Varjosalo, Markku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597545/
https://www.ncbi.nlm.nih.gov/pubmed/31263572
http://dx.doi.org/10.1038/s41525-019-0088-5

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