Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings

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 pe...

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Veröffentlicht in:	Journal of clinical immunology 2021-07, Vol.41 (5), p.975-986
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Asymptomatic Biomedical and Life Sciences Biomedicine CARD Signaling Adaptor Proteins - deficiency CARD Signaling Adaptor Proteins - genetics CARD Signaling Adaptor Proteins - immunology CD14 antigen Child Child, Preschool Cytokines Disease Exophiala Female Gene expression Humans Immunology Infectious Diseases Inflammation Interleukin-6 - immunology Internal Medicine Invasive Fungal Infections - diagnosis Invasive Fungal Infections - genetics Invasive Fungal Infections - immunology Lymphadenopathy Male Medical Microbiology Monocytes Monocytes - immunology mRNA Mutation Original Article Patients Phaeohyphomycosis - diagnosis Phaeohyphomycosis - genetics Phaeohyphomycosis - immunology Phenotypes Siblings Tumor Necrosis Factor-alpha - immunology
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