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

ABSTRACT:

Objective

Multiple genome-wide association studies have identified a strong genetic linkage between the SKAP2 locus and type 1 diabetes (T1D), but how this leads to disease remains obscure. Here, we characterized the functional consequence of a novel SKAP2 coding mutation in a patient with T1D to gain further insight into how this impacts immune tolerance.

Research design and methods

We identified a 24-year-old individual with T1D and other autoimmune and inflammatory conditions. The proband and first-degree relatives were recruited for whole-exome sequencing. Functional studies of the protein variant were performed using a cell line and primary myeloid immune cells collected from family members.

Results

Sequencing identified a de novo SKAP2 varia

SUBMITTER: Rutsch N 

PROVIDER: S-EPMC8385470 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature