Publications by authors named "L Nogee"
Article Synopsis
- The study discusses a rare lung disease in nine children linked to a genetic deficiency of the CCR2 receptor, leading to conditions like pulmonary alveolar proteinosis (PAP) and increased vulnerability to infections.
- This deficiency is characterized by loss-of-function variants, affecting the migration and signaling of immune cells, particularly monocytes, due to a lack of response to CCL-2, a chemokine essential for these processes.
- Elevated levels of CCL-2 in the blood serve as a diagnostic marker for identifying children with unexplained respiratory issues or recurrent infections, indicating the importance of CCR2 in lung health and immune response.
Introduction: Childhood interstitial and diffuse lung disease (chILD) encompasses a broad spectrum of rare disorders. The Children's Interstitial and Diffuse Lung Disease Research Network (chILDRN) established a prospective registry to advance knowledge regarding etiology, phenotype, natural history, and management of these disorders.
Methods: This longitudinal, observational, multicenter registry utilizes single-IRB reliance agreements, with participation from 25 chILDRN centers across the U.
Newly developing genomic technologies are an increasingly important part of clinical care and thus, it is not only important to understand the technologies and their limitations, but to also interpret the findings in an actionable fashion. Clinical geneticists and genetic counselors are now an integral part of the clinical team and are able to bridge the complexities of this rapidly changing science between the bedside clinicians and patients. This manuscript reviews the terminology, the current technology, some of the known genetic disorders that result in lung disease, and indications for genetic testing with associated caveats.
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