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Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency
Ifat Z Krase1,2, James Woodward1,2,3, Cindy S Bauer1,2,4
1Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
Abstract:
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 immunodeficiency impairing lymphocyte proliferation, presenting with coccidioidomycosis.
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