@article{4fcd4e6919e74fd2a0c7069c8500abbc,
title = "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.",
keywords = "immunology, respiratory medicine",
author = "{Al Baroudi}, Sahar and Collaco, {Joseph Michael} and Sharon McGrath-Morrow",
note = "Funding Information: This study was funded by NIH T32 Grant-For Postdoctoral Fellowship. Funding Information: In patients presenting with multisystem involvement, further diagnostic studies should be carried out. In the case that we presented, the patient was diagnosed with cytotoxic T-lymphocyte–associated antigen 4 deficiency using whole-exome sequencing. The diagnosis changed her management using targeted immunosuppression and ultimately bone marrow transplant. 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. Publisher Copyright: {\textcopyright} 2019 BMJ Publishing Group Limited. No commercial re-use. See rights and permissions. Published by BMJ.",
year = "2019",
month = dec,
day = "8",
doi = "10.1136/bcr-2019-231600",
language = "English (US)",
volume = "12",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "BMJ Publishing Group",
number = "12",
}