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CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies  Xiaowen Wang, MD, Wenyan Wang, PhD, Zhimiao Lin, MD, Xiaolin Wang,

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Presentation on theme: "CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies  Xiaowen Wang, MD, Wenyan Wang, PhD, Zhimiao Lin, MD, Xiaolin Wang,"— Presentation transcript:

1 CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies 
Xiaowen Wang, MD, Wenyan Wang, PhD, Zhimiao Lin, MD, Xiaolin Wang, PhD, Ting Li, MS, Jin Yu, MD, Wei Liu, MD, PhD, Zhongsheng Tong, MD, Yonghao Xu, MD, Junling Zhang, PhD, Liping Guan, MS, Lanlan Dai, BS, Yong Yang, MD, Wenling Han, PhD, Ruoyu Li, MD  Journal of Allergy and Clinical Immunology  Volume 133, Issue 3, Pages e3 (March 2014) DOI: /j.jaci Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A-D, Clinical manifestations of 4 patients: they have dark red plaques and nodules on their faces, with ulcerations and eschars. Patient 4 has severe skin lesions involving his eyes. E, Skin biopsy specimen of patient 1 showed intense inflammatory infiltration, with slender, strongly septate, dematiaceous hyphae (Periodic Acid–Schiff; original magnification ×400). F, Microscopic appearance of Phialophora verrucosa: slide culture showed brown, septate hyphae with typical Phialophora type of sporulation (Corn Meal Agar, 14 days at 28°C; original magnification ×1000). Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Detection of CARD9 protein and TH17 cell deficiencies: A, Extracted proteins of PBMCs from 5 healthy donors and 3 patients were detected by using Western blot. B, Proportions of TH17 cells (CD4+/IL-17+) in peripheral lymphocytes were analyzed by using fluorescence-activated cell sorting. C, Representative cytokines of TH17 cells were detected in serum by using ELISA. Macrophages (D) and DCs (E) derived from peripheral monocytes were stimulated with Phialophora verrucosa (108/mL) for 48 hours. Cytokines for the differentiation, activation, and expansion of TH17 cells (IL-6, TNF-α, IL-1β, and IL-23p19) were detected in supernatants by using ELISA. Results are depicted as average of 4 healthy donors ± SD. P < .05 was considered statistically significant. *P < .05, **P < .01, and ***P < .001. Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 A, Chromatograms of Sanger sequencing of the CARD9 gene in the 4 patients: arrows indicate the mutation sites. B, Pedigrees of the 4 patients: arrows indicate the probands. The genotypes of CARD9 for each individual were listed below. C, Identification of CARD9 transcription: CARD9 mRNA in PBMCs was detected by using real-time PCR. One of the patients was analyzed as relative control (ns = none of significant, P > .05). WT, Wild-type. Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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