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.
- respiratory medicine
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Contributors SAB: acquisition of the data, acquisition of the consent form, researching the literature and writing the manuscript. JMC: editing the manuscript. SM-M was the attending on service who first thought about obtaining a genetic work-up for this patient that ultimately led to the correct diagnosis.
Funding This study was funded by NIH T32 Grant - For Postdoctoral Fellowship.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.