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Article

A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency

22 Apr 2025

Abstract excerpt

Hemizygous germline loss-of-function variants in DOCK11, the gene encoding the dedicator of cytokinesis 11 (DOCK11) have been recently identified to cause variable immunodeficiency and immune dysregulation. Features of immune dysregulation have been reported in all so far identified male patients with damaging variants in DOCK11, commonly manifesting with autoimmune cytopenias, inflammatory bowel disease, benign...

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PMID: 40274249
DOI: 10.1016/j.clim.2025.110504

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