Article
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
Journal of clinical immunology - 1 Jul 2021
Imanaka Yusuke, Taniguchi Maki, Doi Takehiko, Tsumura Miyuki, Nagaoka Rie, Shimomura Maiko, Asano Takaki, Kagawa Reiko, Mizoguchi Yoko, Karakawa Shuhei, Arihiro Koji, Imai Kohsuke, Morio Tomohiro, Casanova Jean-Laurent, Puel Anne, Ohara Osamu, Kamei Katsuhiko, Kobayashi Masao, Okada Satoshi
Abstract excerpt
PURPOSE: Autosomal recessive CARD9 deficiency predisposes patients to invasive fungal disease. Candida and Trichophyton species are major causes of fungal disease in these patients. Other CARD9-deficient patients display invasive diseases caused by other fungi, such as Exophiala spp. The clinical penetrance of CARD9 deficiency regarding fungal disease is surprisingly not complete until adulthood, though the age...
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