CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Litera
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CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature Xiaopo Wang . Hui Ding . Zhiming Chen . Xuesi Zeng . Jianfang Sun . Hao Chen . Meihua Fu
Received: 17 April 2020 / Accepted: 18 August 2020 Ó Springer Nature B.V. 2020
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. Keywords CARD9 deficiency Mucormycosis Deep dermatophytosis Superficial dermatophytosis
Handling Editor: Weida Liu X. Wang X. Zeng J. Sun H. Chen (&) Department of Pathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing 210042, Jiangsu, China e-mail: [email protected]
M. Fu (&) Department of Mycology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing 210042, Jiangsu, China e-mail: [email protected]
H. Ding Laser Cosmetic Center, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing 210042, Jiangsu, China Z. Chen Genetic Skin Disease Center, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, 12 Jiangwangmiao Street, Nanjing 210042, Jiangsu, China
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Mycopathologia
Introduction Caspase recruitment domain-containing protein 9 (CARD9), mainly expressed in myeloid cells, is a critical adapter molecule which is principally involved in the downstream signaling of several C-type lectin receptors and plays an essential role in antifungal immunology [1]. Inherited CARD9 deficiency has been associated with various fungal infections, such as extensive superficial or deep dermatophytosis, subcutaneous and invasive phaeohyphomycosis, Mucor irregularis, extrapulmonary aspergillosis and mucocutaneous or invasive candidiasis [2]. Most cases are caused by only one type of fungus. Intriguingly, only few patients with CARD9 deficiency have been reported to suffer from multiple invasive fungal diseases due to diffe
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