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

You, Cheng-Yan; Hu, Fang; Lu, Si-Wei; Pi, Dan-Dan; Xu, Feng; Liu, Chengjun; Fu, Yan

doi:10.1007/s11046-021-00576-8

Cited by 18 publications

(12 citation statements)

References 27 publications

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“…As a result, a total of 28 cases with confirmed IEI from seventeen articles were analyzed. The characteristics of the patients are summarized in Table 5 ( Yuen et al., 1986 ; Kamchaisatian et al., 2006 ; Ma et al., 2009 ; Sripa et al., 2010 ; Lee et al., 2012 ; Lee et al., 2014 ; Fan et al., 2018 ; Li et al., 2018 ; Du et al., 2019 ; Lee et al., 2019 ; Chen et al., 2020 ; Pan et al., 2020 ; Zhang et al., 2020 ; Ba et al., 2021 ; Chen et al., 2021 ; Fan et al., 2021 ; You et al., 2021 ).…”

Section: Resultsmentioning

confidence: 99%

“…Intrinsic and innate immunodeficiencies associated with T. marneffei infection have also been reported, such as STAT1 and CARD9 . Caspase recruitment domain–containing protein 9 (CARD9) is an adaptor molecule in the cytosol of myeloid cells required for the induction of T-helper cells producing interleukin-17 (Th17 cells), and it can effectively integrate the recognition signals of various natural immune receptors and plays an important role in antifungal immunity ( Drummond et al., 2011 ; Salazar and Brown, 2018 ; You et al., 2021 ). Signal transducer and activator of transcription (STAT) proteins are critical transcription factors for the appropriate regulation of cellular responses to interferons, cytokines, growth factors, and hormones.…”

Section: Discussionmentioning

confidence: 99%

“…The common manifestations of disseminated T. marneffei infection include recurrent fever, anemia, weight loss, skin lesions, hepatosplenomegaly, lymphadenopathy, and gastrointestinal and respiratory signs. When T. marneffei infection disseminates systemically, it can run a rapidly progressive course and be life-threatening without timely and effective antifungal therapy ( You et al., 2021 ).…”

Section: Introductionmentioning

confidence: 99%

“…In recent years, T. marneffei infection in children with IEI has been increasingly diagnosed. Genetic mutations involving STAT1, STAT3, CD40LG, CARD9 and IFNGR1 have been reported to be associated with T. marneffei infection ( Ma et al., 2009 ; Lee et al., 2012 ; Du et al., 2019 ; Lee et al., 2019 ; Ba et al., 2021 ; You et al., 2021 ). However, as more cases are reported, other potential gene mutations may be discovered that predispose the host to T. marneffei infection.…”

Section: Introductionmentioning

confidence: 99%

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Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity

Li-pin

Sun

Ying

et al. 2022

Front. Cell. Infect. Microbiol.

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Talaromyces marneffei (T. marneffei) is an opportunistic pathogen. Patients with inborn errors of immunity (IEI) have been increasingly diagnosed with T. marneffei in recent years. The disseminated infection of T. marneffei can be life-threatening without timely and effective antifungal therapy. Rapid and accurate pathogenic microbiological diagnosis is particularly critical for these patients. A total of 505 patients with IEI were admitted to our hospital between January 2019 and June 2022, among whom T. marneffei was detected in 6 patients by metagenomic next-generation sequencing (mNGS), and their clinical and immunological characteristics were summarized. We performed a systematic literature review on T. marneffei infections with published immunodeficiency-related gene mutations. All patients in our cohort were confirmed to have genetic mutations in IL12RB1, IFNGR1, STAT1, STAT3, and CD40LG. T. marneffei was detected in both the blood and lymph nodes of P1 with IL12RB1 mutations, and the clinical manifestations were serious and included recurrent fever, weight loss, severe anemia, splenomegaly and lymphadenopathy, all requiring long-term antifungal therapy. These six patients received antifungal treatment, which relieved symptoms and improved imaging findings. Five patients survived, while one patient died of sepsis after hematopoietic stem cell transplantation. The application of mNGS methods for pathogen detection in IEI patients and comparison with traditional diagnosis methods were investigated. Traditional diagnostic methods and mNGS tests were performed simultaneously in 232 patients with IEI. Compared to the traditional methods, the sensitivity and specificity of mNGS in diagnosing T. marneffei infection were 100% and 98.7%, respectively. The reporting time for T. marneffei detection was approximately 26 hours by mNGS, 3-14 days by culture, and 6-11 days by histopathology. T. marneffei infection was first reported in IEI patients with IL12RB1 gene mutation, which expanded the IEI lineage susceptible to T. marneffei. For IEI patients with T. marneffei infection, we highlight the application of mNGS in pathogenic detection. mNGS is recommended as a front-line diagnostic test for rapidly identifying pathogens in complex and severe infections.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity

Li-pin

Sun

Ying

et al. 2022

Front. Cell. Infect. Microbiol.

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“…First described in 2009 in a consanguineous family from Iran with chronic mucocutaneous candidiasis (CMC) and dermatophytosis [ 36 ], AR CARD9 deficiency (OMIM: 212050) has since, as of January 2022, been reported in 85 patients (including this reported case) from 62 kindreds [ 8 , 21 , 22 , 28 , 31 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ]. CARD9 encodes an adaptor protein, expressed primarily in myeloid cells, which signals downstream from the pattern recognition receptors Dectin-1, Dectin-2, and macrophage-inducible C-type lectin [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

Paccoud

Vignier

Boui

et al. 2022

JoF

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Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria. Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation.

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Aspergillus , Talaromyces , and Penicillium

Chen,

Meyer,

Sorrell

et al. 2023

ClinMicroNow

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The genus Aspergillus is classified in the family Trichocomaceae of the Ascomycota. The majority of human infections due to known Aspergillus species are caused by A. fumigatus , followed by A. flavus , A. terreus , and A. niger , with recognition that these designations represent complexes of closely related species. Aspergillus species are environmental saprophytes that thrive in decaying vegetation and are readily cultured from soil, water, certain foods, and air. Aspergillus DNA can be detected in clinical specimens either by nucleic acid amplification methods specifically targeting Aspergillus or by panfungal PCR assays followed by DNA sequencing for species identification. Penicillium sensu lato is associated with two teleomorphic genera: Eupenicillium and Talaromyces . Assays have been developed to detect antibodies to Talaromyces marneffei , Talaromyces marneffei antigen, or both in serum and other body fluids in various test formats, including immunodiffusion, indirect immunofluorescence, and enzyme‐linked immunosorbent assay.

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

Cited by 18 publications

References 27 publications

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity

Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

Aspergillus , Talaromyces , and Penicillium

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