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Understanding pediatric cervicofacial non-tuberculous mycobacterial infection.

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January 2025

Eunice Im is a student in the College of Human Medicine at Michigan State University in Grand Rapids, Mich. Erin Gawel is a student in the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo in Buffalo, N.Y. Alyson Coppola practices at the University at Buffalo Otolaryngology in Williamsville, N.Y. Michele Carr is a professor in the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Cervicofacial non-tuberculous mycobacterial infection should be a part of the differential diagnosis for immunocompetent children ages 1 to 5 years who present with painless submandibular or preauricular lymphadenopathy. Although a benign and self-limiting disease, patients can develop a chronically draining fistula if not diagnosed and treated promptly. The diagnostic process can be managed with a combination of microbiological studies, cytology, laboratory tests, and imaging studies.

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Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.

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