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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… Click to show full abstract
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.
Keywords:
combined immunodeficiency;
ctps1;
mediastinal coccidioidomycosis;
seronegative mediastinal;
coccidioidomycosis
Journal Title: Open Forum Infectious Diseases
Year Published: 2022
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Journal Title: Open Forum Infectious Diseases
Year Published: 2022
Link to full text (if available)
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recommendations!