Аутоиммунная ретинопатия, осложняющая TLR7-related моногенную интерферонопатию

Monogenic systemic lupus erythematosus (SLE) is a rare, inherited form of childhood-onset lupus characterized by disregulated innate immunity [¹, ²]. It is caused by single-gene mutations leading to defective clearance of extracellular nucleic acids, activation of autoreactive B cells and production of autoantibodies. Among these genetic mutations, gain-of-function (GOF) mutations in TLR7, or in genes encoding molecules that regulate TLR7 function, have been directly linked to monogenic SLE [¹, ²]. TLR7 is an endosomal Toll-like receptor that recognizes single-stranded RNA, commonly of viral origin but also from the host itself when nucleic acid clearance is defective [¹]. In monogenic SLE, overactive TLR7 results in a vicious cycle of activation of plasmocytoid dendritic cells, sustained production of type I interferons, and amplification of autoimmunity through B cell stimulation and immune complex formation [³]. In addition to early-onset SLE, TLR7-GOF variants have been linked to neuromyelitis optica, progressive intracranial calcifications, and white matter disease [¹]. Conversely, to date no known cases of direct retinal involvement have been described. In the present study, we report a 10-year-old girl who developed non-paraneoplastic autoimmune retinopathy (npAIR), in the context of *TRL7-*related interferonopathy.