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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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6597545/
https://ncbi.nlm.nih.gov/pubmed/31263572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0088-5
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