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Case report
An 18-year-old woman with pulmonary nodules found to have cytotoxic T-lymphocyte–associated antigen 4 deficiency
  1. Sahar Al Baroudi,
  2. Joseph Michael Collaco and
  3. Sharon McGrath-Morrow
  1. The Department of Pediatric Pulmonary Medicine, Johns Hopkins University, Baltimore, Maryland, USA
  1. Correspondence to Dr Sahar Al Baroudi; ALBAROUDIS{at}


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.

  • immunology
  • 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.