血清学阴性纵隔球孢子菌病作为CTPS1联合免疫缺陷的一种新表现形式。
Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency.
作者信息
Krase Ifat Z, Woodward James, Bauer Cindy S, Miller Holly, Sacco Keith
机构信息
Department of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
出版信息
Open Forum Infect Dis. 2022 Aug 4;9(8):ofac403. doi: 10.1093/ofid/ofac403. eCollection 2022 Aug.
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.
先天性免疫缺陷可能表现为对球孢子菌病易感。在损害干扰素-γ和白细胞介素12信号轴的疾病中尤其如此。我们描述了首例胞苷三磷酸合成酶1（CTPS1）缺乏症病例，这是一种损害淋巴细胞增殖的联合免疫缺陷，表现为球孢子菌病。
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