title: Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. Electronic address: zhi-mingli@163.com.
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Shan
authors.initials: S
authors.lastname: Fang
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Haigang
authors.initials: H
authors.lastname: Zhu
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Xueqi
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Cai
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
authors.forename: Bingxu
authors.initials: B
authors.lastname: Li
authors.affiliation: Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. Electronic address: xuyunsheng@sohu.com.
authors.forename: Yunsheng
authors.initials: Y
authors.lastname: Xu
mesh_terms: D020789:Cathepsin C / Q000235:genetics*; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D008297:Male; D009154:Mutation; D010214:Papillon-Lefevre Disease / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D016176:T-Lymphocyte Subsets / Q000276:immunology; D055815:Young Adult
chemical_list: D007073:Immunoglobulin E; C533918:CTSC protein, human; D020789:Cathepsin C