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Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency

Inborn errors of immunity may present with susceptibility to coccidioidomycosis. This is especially so in disorders impairing the interferon-γ and interleukin 12 signaling axis. We describe the first case of cytidine nucleotide triphosphate synthetase 1 (CTPS1) deficiency, a combined immunodeficienc...

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Detalles Bibliográficos
Autores principales: Krase, Ifat Z, Woodward, James, Bauer, Cindy S, Miller, Holly, Sacco, Keith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9379812/
https://www.ncbi.nlm.nih.gov/pubmed/35983265
http://dx.doi.org/10.1093/ofid/ofac403