Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.

Niklas RutschChester E ChamberlainWesley DixonLauren SpectorLisa R Letourneau-FreibergWint W LwinLouis H PhilipsonAlexander ZarbockKarline SaintusJuehu WangMichael S GermanMark S AndersonClifford A Lowell

Published in: Diabetes care (2021)

SKAP2 plays a key role in myeloid cell activation and migration. This particular mutation in a patient with T1D and multiple autoimmune conditions implicates a role for activating SKAP2 variants in autoimmune T1D.

Keyphrases

multiple sclerosis
signaling pathway
type diabetes
drug induced
cardiovascular disease
single cell
bone marrow
case report
acute myeloid leukemia
oxidative stress
cell therapy
copy number
dendritic cells
glycemic control
immune response
dna methylation
genome wide
weight loss