Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Zhang, Liang; Chen, Zhi; Li, Wenyan; Liu, Qiao; Wang, Yanping; Chen, Xuemei; Tian, Zhirui; Yang, Qiuyun; An, Yunfei; Zhang, Zhiyong; Mao, Huawei; Tang, Xuemei; Lv, Ge; Zhao, Xiaodong

Zhang, Liang; Chen, Zhi; Li, Wenyan; Liu, Qiao; Wang, Yanping; Chen, Xuemei; Tian, Zhirui; Yang, Qiuyun; An, Yunfei; Zhang, Zhiyong; Mao, Huawei; Tang, Xuemei; Lv, Ge; Zhao, Xiaodong.

Afiliação

Zhang L; Department of Pediatric Research InstituteMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and Disorders (Chongqing); China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chil
Chen Z; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Li W; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Liu Q; Department of Nephrology, Rheumatology and Immunology, Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, Hunan, China.
Wang Y; Department of Pediatric Research InstituteMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and Disorders (Chongqing); China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chil
Chen X; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Tian Z; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Yang Q; Department of Immunology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
An Y; Department of Pediatric Research InstituteMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and Disorders (Chongqing); China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chil
Zhang Z; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Mao H; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Tang X; Department of Pediatric Research InstituteMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and Disorders (Chongqing); China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chil
Lv G; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhao X; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.

J Clin Immunol ; 42(6): 1280-1292, 2022 08.

Article em En | MEDLINE | ID: mdl-35596857

Assuntos

Toxinas Botulínicas; Doenças da Imunodeficiência Primária; Actinas/genética; Actinas/metabolismo; Toxinas Botulínicas/genética; Toxinas Botulínicas/metabolismo; Caspase 3/genética; Caspase 3/metabolismo; Citocinas/metabolismo; Mutação com Ganho de Função; Guanosina Trifosfato/metabolismo; Humanos; Imunoglobulina G/metabolismo; Mutação/genética; Doenças da Imunodeficiência Primária/genética; Espécies Reativas de Oxigênio/metabolismo; Receptores de Antígenos de Linfócitos T/genética; Proteínas rac de Ligação ao GTP/genética; Proteínas rac de Ligação ao GTP/metabolismo

Palavras-chave

Apoptosis,; Combined immunodeficiency,; Polarization; Ras-related C3 botulinum toxin substrate 2 (RAC2),

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Toxinas Botulínicas / Doenças da Imunodeficiência Primária Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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