Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency-Reference-Cited by-同舟云学术

Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency

Published:2022-08-01 Issue:8 Volume:9 Page:
ISSN:2328-8957
Container-title:Open Forum Infectious Diseases
language:en
Short-container-title:

Author:

Krase Ifat Z¹²,Woodward James¹²³,Bauer Cindy S¹²⁴,Miller Holly¹²⁵,Sacco Keith¹²⁴^ORCID

Affiliation:

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

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.

Publisher

Oxford University Press (OUP)

Subject

Infectious Diseases,Oncology

Link

https://academic.oup.com/ofid/advance-article-pdf/doi/10.1093/ofid/ofac403/45242045/ofac403.pdf

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