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Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24723
Abstract: Recognition of underlying genetic etiologies of disease is increasing at an exponential rate, likely due to greater access to and lower cost of genetic testing. Monogenic causes of disease, or conditions resulting from a mutation…
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Keywords:
pulmonary clinic;
pediatric pulmonary;
genetics;
genetics pediatric ... See more keywords
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Published in 2021 at "Annual review of immunology"
DOI: 10.1146/annurev-immunol-093019-124513
Abstract: Primary immunodeficiency diseases (PIDs) are a rapidly growing, heterogeneous group of genetically determined diseases characterized by defects in the immune system. While individually rare, collectively PIDs affect between 1/1,000 and 1/5,000 people worldwide. The clinical…
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Keywords:
mediated diseases;
genetics;
pediatric immune;
genetics pediatric ... See more keywords