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Article

Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy.

Journal of clinical immunology - 20 May 2026

Antropoli Alessio, Cicinelli Maria Vittoria, Balduzzi Edoardo, Bianco Lorenzo, Martina Elisabetta, Zecca Marco, Bandello Francesco, Miserocchi Elisabetta

Abstract excerpt

Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including systemic lupus erythematosus (SLE)-like disease, neuromyelitis optica, and progressive leukoencephalopathy. The p.(Leu528Ile) variant has previously been shown to underlie this constellation of findings. Here, we report the extended follow-up of a previously described young female patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42159815
DOI: 10.1007/s10875-026-02033-x
PMCID: PMC13368886

Genes

TLR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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