Citations 1
Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency
Krase, Ifat Z , Woodward, James , Bauer, Cindy S. , Miller, Holly, Sacco, Keith , Sacco, Keith A , Woodward, James
Open Forum Infectious Diseases | August 13, 2022 | Volume: 9 | Issue: 8 | Pages: No page available
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.