A report of a clinical case of a 4-year-old boy with a diagnosis of juvenile idiopathic arthritis at the age of 3 when he was admitted to Pediatric Rheumatology Department. Based on the history of recurrent infections and laboratory data of neutropenia, a genetic study was performed confirming a mutation in the ELANE gene c.377C> T (p.Ser126Leu). The child is receiving concomitant immunosuppressive therapy for arthritis and treatment with granulocyte colony stimulating factor due to congenital neutropenia.Immune deficiencies are increasingly associated with autoimmune diseases. Timely diagnosis and balance in therapy, consisting of concomitant immunosuppression and prevention of infections, are important.
Read the full article here.