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Related Concept Videos

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Related Experiment Video

Updated: Nov 1, 2025

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

Niklas Rutsch1,2,3, Chester E Chamberlain4,5,6, Wesley Dixon1,2

  • 1Department of Laboratory Medicine, University of California, San Francisco, San Francisco, San Francisco, CA.

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|June 26, 2021
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Summary

A novel mutation in the SKAP2 gene was identified in a type 1 diabetes (T1D) patient, leading to enhanced immune cell activity and migration. This gain-of-function mutation disrupts immune tolerance, contributing to autoimmune T1D.

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Genome-wide association studies link the SKAP2 locus to type 1 diabetes (T1D).
  • The precise mechanism by which SKAP2 variants contribute to T1D pathogenesis is not fully understood.

Purpose of the Study:

  • To investigate the functional consequences of a novel SKAP2 coding mutation in a T1D patient.
  • To elucidate the impact of this mutation on immune tolerance and myeloid cell function.

Main Methods:

  • Whole-exome sequencing identified a de novo SKAP2 variant (c.457G>A, p.Gly153Arg) in the proband.
  • Functional studies utilized monocyte-derived macrophages from the patient and a human macrophage cell line expressing the variant.

Main Results:

  • The SKAP2 p.Gly153Arg variant demonstrated enhanced integrin pathway activity and constitutive cell migration.
  • This gain-of-function mutation, located in a conserved lipid-binding loop, disrupted normal myeloid immune cell function.
  • The variant induced similar aberrant phenotypes in both patient-derived and engineered macrophage models.

Conclusions:

  • SKAP2 is critical for myeloid cell activation and migration.
  • Activating SKAP2 variants, such as p.Gly153Arg, play a role in the autoimmune pathogenesis of T1D.
  • This finding implicates SKAP2 mutations as a potential cause of T1D and associated autoimmune conditions.