Article

Gain-of-function mutation in SKAP2 leads to type 1 diabetes and broader autoimmunity through hyperactive integrin signaling in myeloid cells

2026-04-06

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<h4>ABSTRACT</h4> Many genetic variants associated with increased type 1 diabetes (T1D) risk are located within the SKAP2 gene; however, the mechanisms by which these variants confer disease risk remain unclear. SKAP2 encodes an adapter protein that functions within the integrin signaling pathway and is found at the highest levels in myeloid leukocytes. We recently identified a de novo gain-of-function SKAP2...

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Literature Corpus work: 8918a83b-feb0-5c62-823d-23bdc29f77e4
DOI: 10.64898/2026.04.02.716136

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Gain-of-function mutation in <i>SKAP2</i> leads to type 1 diabetes and broader autoimmunity through hyperactive integrin signaling in myeloid cells

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