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CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature

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Abstract

Deficiency of caspase recruitment domain-containing protein 9 (CARD9) is an autosomal recessive primary immunodeficiency disorder, which typically predisposes immunocompetent individuals to single fungal infections and multiple fungal infections are very rare. We study an otherwise healthy 48-year-old man, who had been admitted to our hospital diagnosed with deep dermatophytosis caused by Trichophyton rubrum for three times at 29, 33 and 48 years old, respectively. At the age of 39 years, he suffered from cutaneous mucormycosis due to Mucor irregularis. Moreover, he had a long history of superficial fungal diseases and occasional oral candidiasis. Whole-exome sequencing revealed two compound heterozygous splicing variants in CARD9 gene, c. 184 + 5 G > T and c. 951G > A, confirmed by Sanger sequencing. Patients with recurrent fungal infections especially invasive fungal infections in the absence of known immunodeficiencies should be tested for CARD9 mutations.

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Funding

Funding for this study was obtained from the CAMS Innovation Fund for Medical Sciences (CIFMS-2017-I2M-1-107) & the Nanjing Incubation Program for National Clinical Research Center [2019060001].

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Authors and Affiliations

  1. Department of Pathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing, 210042, Jiangsu, China

    Xiaopo Wang, Xuesi Zeng, Jianfang Sun & Hao Chen

  2. Laser Cosmetic Center, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing, 210042, Jiangsu, China

    Hui Ding

  3. Genetic Skin Disease Center, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing, 210042, Jiangsu, China

    Zhiming Chen

  4. Department of Mycology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing, 210042, Jiangsu, China

    Meihua Fu

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  1. Xiaopo Wang
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  2. Hui Ding
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  3. Zhiming Chen
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Correspondence to Hao Chen or Meihua Fu.

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Wang, X., Ding, H., Chen, Z. et al. CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature. Mycopathologia 185, 1041–1050 (2020). https://doi.org/10.1007/s11046-020-00487-0

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