Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.

Qin, Tao; An, Yunfei; Liu, Chaohong; Wu, Junfeng; Dai, Rongxin; Liu, Dawei; Li, Xiaohui; Jiang, Liping; Wu, Daoqi; Tang, Xuemei; Song, Wenxia; Wang, Tao; Zhao, Xiaodong

Qin, Tao; An, Yunfei; Liu, Chaohong; Wu, Junfeng; Dai, Rongxin; Liu, Dawei; Li, Xiaohui; Jiang, Liping; Wu, Daoqi; Tang, Xuemei; Song, Wenxia; Wang, Tao; Zhao, Xiaodong.

Afiliação

Qin T; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
An Y; Division of Immunology; Research Center for Immunologic and Infectious Diseases; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Liu C; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Wu J; Division of Immunology; Research Center for Immunologic and Infectious Diseases; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Dai R; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Liu D; Division of Immunology; Research Center for Immunologic and Infectious Diseases; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Li X; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Jiang L; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Wu D; Division of Immunology; Research Center for Immunologic and Infectious Diseases; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Tang X; Division of Immunology; Research Center for Immunologic and Infectious Diseases; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Song W; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
Wang T; Division of Immunology, Fujian Provincial Hospital, Fujian, 350001, China. 241811191@qq.com.
Zhao X; Research Center for Immunologic and Infectious diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. zhaoxd530@aliyun.com.

Immunol Res ; 64(1): 260-71, 2016 Feb.

Article em En | MEDLINE | ID: mdl-26659092

Assuntos

Fatores de Troca do Nucleotídeo Guanina/metabolismo; Síndrome de Job/diagnóstico; Mutação Puntual/genética; Deleção de Sequência/genética; Adolescente; Células Cultivadas; Criança; Pré-Escolar; China; Citotoxicidade Imunológica/genética; Análise Mutacional de DNA; Feminino; Fatores de Troca do Nucleotídeo Guanina/genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Interleucina-10/metabolismo; Síndrome de Job/genética; Ativação Linfocitária/genética; Masculino

Palavras-chave

DOCK8; Flow cytometry; Hyper-IgE syndrome; Immune function; Mutation; Targeted deep sequencing

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Mutação Puntual / Fatores de Troca do Nucleotídeo Guanina / Síndrome de Job Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Immunol Res Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: China

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