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Review
. 2021 Aug;186(4):553-561.
doi: 10.1007/s11046-021-00576-8. Epub 2021 Jul 5.

Talaromyces Marneffei Infection in an HIV-Negative Child with a CARD9 Mutation in China: A Case Report and Review of the Literature

Cheng-Yan You  1   2   3   4   5 , Fang Hu  1   2   3   4   5 , Si-Wei Lu  1   2   3   4   5 , Dan-Dan Pi  1   2   3   4   5 , Feng Xu  1   2   3   4   5 , Cheng-Jun Liu #  6   7   8   9   10 , Yue-Qiang Fu #  11   12   13   14   15
Affiliations
Review

Talaromyces Marneffei Infection in an HIV-Negative Child with a CARD9 Mutation in China: A Case Report and Review of the Literature

Cheng-Yan You et al. Mycopathologia. 2021 Aug.

Abstract

Background: Talaromyces marneffei (T. marneffei) is a thermally dimorphic fungus causing systemic mycosis. Due to the atypical symptoms and diverse imaging findings, T. marneffei-infected patients may be misdiagnosed thus preventing timely antifungal therapy. Moreover, HIV-negative patients with T. marneffei infection may be congenitally immunocompromised because of the mutation of immune-related genes.

Case presentation: We describe a case of an HIV-negative child who developed disseminated T. marneffei infection in a nonendemic area. Chest CT showed similar imaging changes of miliary pulmonary tuberculosis, while there was no other evidence of tuberculosis infection, and empirical antituberculosis treatment was not effective. Lymphocyte subset analysis showed reduced natural killer cells, and the immunoglobulin profile showed low levels of IgM, C3 and C4. A bone marrow smear revealed T. marneffei infection, and ascites culture also proved T. marneffei infection. Despite antifungal treatment, the child died of multiple organ failure. Two gene mutations in caspase recruitment domain-containing protein 9 (CARD9) were detected, which had not been reported previously in T. marneffei-infected patients.

Conclusions: HIV-negative patients with CARD9 mutations may be potential hosts of T. marneffei. Abnormalities in the immunoglobin profile and lymphocyte subset may provide clues for immunocompromised patients, and further genetic testing is advised to identify gene mutations in HIV-negative patients with T. marneffei infection.

Keywords: CARD9 mutation; Child; HIV-negative; Talaromyces marneffei.

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Conflict of interest statement

All authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
A chest computed tomography scan showed extensive fine-grained shadows in both lungs, with cavitation in the upper lobe of both lungs and hilar enlargement
Fig. 2
Fig. 2
Microscopic examination of the bone marrow smear identified numerous round to oval, elongated, thin-walled yeast cells with central septation distributed in the intracellular and extracellular space, which indicated T. marneffei infection
Fig. 3
Fig. 3
Two heterozygous mutations in CARD9 in c.440T>C (p. L147P) and c.586A>G (p. K196E)
See this image and copyright information in PMC

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