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The aim is to investigate UNC93B1 variants and their impact on TLR7-mediated autoimmunity in systemic lupus erythematosus.

UNC93B1 variants underlie TLR7-dependent autoimmunity

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The aim is to investigate UNC93B1 variants and their impact on TLR7-mediated autoimmunity in systemic lupus erythematosus.
Identified UNC93B1 variants E92G and R336L in four patients with early-onset SLE.
Analyzed cytokine production in patient cells and mouse macrophages stimulated with TLR agonists.
Patient-derived cells exhibited increased TNF-α and IL-6 following TLR7/TLR8 agonist stimulation.
E92G variant resulted in UNC93B1 protein instability and reduced interaction with TLR7, causing hyperactivation.
Constitutive type I IFN signaling was observed, linking UNC93B1 to TLR7-dependent autoimmunity.

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Randomized trial demonstrates UNC93B1 variants lead to heightened TLR7 signaling in SLE, suggesting new treatment avenues.

Wolf et al. (2024) studied this question.

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