Kimura disease with Nocardiosis in a child with a novel mutation in IL12RB1gene

Abstract

A 12-year-old boy who had been diagnosed with Kimura disease was brought with a history suggestive of acute pyelonephritis. There was a family history of a first-degree relative with a diagnosis of Mendelian Susceptibility to Mycobacterial disease. Investigations revealed a left renal abscess. Aspirate culture grew Nocardia otitidiscaviarum. Targeted gene sequencing revealed a novel mutation in the IL12RB1 gene. Based on the above information a diagnosis of an underlying primary immune deficiency disorder was made. He was managed with appropriate antibiotics, showing steady improvement and eventually a complete recovery.