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

Krase, Ifat Z; Woodward, James; Bauer, Cindy S; Miller, Holly; Sacco, Keith.

Krase IZ; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
Woodward J; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
Bauer CS; Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
Miller H; Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
Sacco K; Department of Pulmonology, Phoenix Children's Hospital, Phoenix, Arizona, USA.

Open Forum Infect Dis ; 9(8): ofac403, 2022 Aug.

Article en En | MEDLINE | ID: mdl-35983265

ABSTRACT

Inborn errors of immunity may present with susceptibility to coccidioidomycosis. This is especially so in disorders impairing the interferon-Î³ 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.

Palabras clave

CTPS1 deficiency; coccidioidomycosis; combined immunodeficiency; fever of unknown origin

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2022 Tipo del documento: Article