Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency

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

doi:10.1093/ofid/ofac403

Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency

Open Forum Infect Dis. 2022 Aug 4;9(8):ofac403. doi: 10.1093/ofid/ofac403. eCollection 2022 Aug.

Authors

Ifat Z Krase^{1

2}, James Woodward^{1

2

3}, Cindy S Bauer^{1

2

4}, Holly Miller^{1

2

5}, Keith Sacco^{1

2

4}

Affiliations

¹ Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
² Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
³ Department of Pulmonology, Phoenix Children's Hospital, Phoenix, Arizona, USA.
⁴ Division of Allergy-Immunology, Phoenix Children's Hospital, Phoenix, Arizona, USA.
⁵ Center for Cancer and Blood Disorders, Phoenix Children's Hospital, 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.

Keywords: CTPS1 deficiency; coccidioidomycosis; combined immunodeficiency; fever of unknown origin.