Delayed Diagnosis of Inborn Errors of Immunity Due to CISH Gene Mutation Presenting As Recurrent Tuberculosis

Tuberculosis (TB) is an infectious disease that most often affects the lungs but can be extrapulmonary, with TB lymphadenitis being the most common extrapulmonary site. The case presented here describes a 54-year-old female patient who was treated for pulmonary TB 20 years prior to this presentation, presented this time with fever, bilateral neck swelling, and unintentional weight loss of 20 kg over four months and histopathological findings of caseating granuloma of the biopsy taken from the right cervical lymph node. After investigation by the immunology team, a genetic test was done. She was found to have a multiple cytokine-inducible SH2-containing protein (CISH) genetic mutation, a discovery that is particularly significant given her history of recurrent TB.