Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Diseases
Immunological disorders
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2019
2019
Historique:
received:
07
11
2018
accepted:
04
06
2019
entrez:
3
7
2019
pubmed:
3
7
2019
medline:
3
7
2019
Statut:
epublish
Résumé
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
Identifiants
pubmed: 31263572
doi: 10.1038/s41525-019-0088-5
pii: 88
pmc: PMC6597545
doi:
Types de publication
Case Reports
Langues
eng
Pagination
14Déclaration de conflit d'intérêts
Competing interestsM.S. has received honoraria from CSL Behring and Octapharma. The other authors declare no competing interests.
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