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...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Npj genomic medicine 2019-06, Vol.4 (1), p.14-7, Article 14
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	692/699 692/699/249 Autophagy Bioinformatics Biomedical and Life Sciences Biomedicine Case Report Gene Function Gene Therapy Human Genetics Internal Medicine Mutation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!