A CLINICAL CASE OF MONOGENIC SYSTEMIC LUPUS ERYTHEMATOSUS CAUSED BY PATHOGENIC MUTATIONS IN THE DNASE1L3 GENE

Boyko Ya.E.^1,2, Boyko M.T.²

• ¹Clinical Center of Pediatric Medicine, Lviv
• ²Danylo Halytskyi Lviv National Medical University, Lviv

Summary. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that usually affects the skin, joints, and kidneys. Monogenic lupus is a congenital disease that resembles SLE with a mutation in a single gene. To date, more than 30 genes associated with the development of monogenic lupus have been described. In this article, we present our patient with a mutation in the DNASE1L3 gene, in whom the disease began at the age of 3 years and 5 months. The spectrum of clinical manifestations in the girl included chronic urticaria and kidney damage. A kidney biopsy revealed signs of lupus nephritis class V according to ISN/RPS. Genetic examinations identified two pathogenic mutations c.290_291del (p.Thr97Ilefs*2) (homo­zygous) in the DNASE1L3 gene (Invitae Laboratory, USA). Mutations in the DNASE1L3 gene cause a rare disease, with only a few cases described worldwide. We are convinced that sharing experiences about such rare diseases will increase the level of awareness in the medical community, which will allow optimizing the processes of their diagnosis and treatment.