An 18-year-old woman with pulmonary nodules found to have cytotoxic T-lymphocyte–associated antigen 4 deficiency

Abstract

An 18-year-old woman was admitted with abdominal pain and hematochezia. She was previously healthy until 15 years of age and was subsequently diagnosed with hypogammaglobulinemia, protein-losing enteropathy, a benign temporal lobe brain lesion/orbital fibroadenoma, autoimmune hepatitis, iron deficiency anaemia and hypothyroidism. She developed respiratory distress and hypoxemia. She was found to have nodules on chest CT scan. She was diagnosed with cytotoxic T-lymphocyte–associated antigen 4 deficiency via genetic testing.