Monogenic forms of lupus are rare and frequently catalogued as lupus-like syndromes, which present some clinical features of systemic lupus erythematous (SLE) and result from T or B lymphocyte dysregulation, uncontrolled inflammatory responses, or loss of immune tolerance. Only a few cases of familial lupus have been reported in the literature with disease-causing mutations. Several rare autoimmune disorders can present overlapping phenotypes with SLE. Other immune-related diseases could also increase the predisposition to develop compatible SLE symptomatology. Variant interpretation is important in these familial forms, as it can modify patient management and guide genetic counselling.
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