Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency.

Autor: Krase IZ; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA., Woodward J; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.; Department of Pulmonology, Phoenix Children's Hospital, Phoenix, Arizona, USA., Bauer CS; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.; Division of Allergy-Immunology, Phoenix Children's Hospital, Phoenix, Arizona, USA., Miller H; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.; Center for Cancer and Blood Disorders, Phoenix Children's Hospital, Phoenix, Arizona, USA., Sacco K; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.; Division of Allergy-Immunology, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Jazyk: angličtina
Zdroj: Open forum infectious diseases [Open Forum Infect Dis] 2022 Aug 04; Vol. 9 (8), pp. ofac403. Date of Electronic Publication: 2022 Aug 04 (Print Publication: 2022).
DOI: 10.1093/ofid/ofac403
Abstrakt: 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.
(© The Author(s) 2022. Published by Oxford University Press on behalf of Infectious Diseases Society of America.)
Databáze: MEDLINE
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