Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.

Frans, Glynis; van der Werff Ten Bosch, Jutte; Moens, Leen; Gijsbers, Rik; Changi-Ashtiani, Majid; Rokni-Zadeh, Hassan; Shahrooei, Mohammad; Wuyts, Greet; Meyts, Isabelle; Bossuyt, Xavier

Frans, Glynis; van der Werff Ten Bosch, Jutte; Moens, Leen; Gijsbers, Rik; Changi-Ashtiani, Majid; Rokni-Zadeh, Hassan; Shahrooei, Mohammad; Wuyts, Greet; Meyts, Isabelle; Bossuyt, Xavier.

Afiliação

Frans G; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
van der Werff Ten Bosch J; Department of Pediatric Hematology, Oncology and Immunology, University Hospital Brussels, Brussels, Belgium.
Moens L; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
Gijsbers R; Leuven Viral Vector Core, KU Leuven, Leuven, Belgium.
Changi-Ashtiani M; Department of Pharmaceutical and Pharmacological Sciences, Laboratory for Viral Vector Technology & Gene Therapy, KU Leuven, Leuven, Belgium.
Rokni-Zadeh H; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Shahrooei M; Department of Medical Biotechnology and Nanotechnology, Zanjan University of Medical Sciences, Zanjan, Iran.
Wuyts G; Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium.
Meyts I; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.
Bossuyt X; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.

J Clin Immunol ; 37(8): 801-810, 2017 Nov.

Article em En | MEDLINE | ID: mdl-28993958

Assuntos

Imunodeficiência de Variável Comum/genética; Displasia Ectodérmica/genética; Fibroblastos/fisiologia; Quinase I-kappa B/genética; Mutação/genética; Infecções por Pseudomonas/diagnóstico; Pseudomonas/fisiologia; Agamaglobulinemia; Células Cultivadas; Pré-Escolar; Imunodeficiência de Variável Comum/diagnóstico; Displasia Ectodérmica/diagnóstico; Hemizigoto; Humanos; Quinase I-kappa B/metabolismo; Interleucina-6/metabolismo; Masculino; Mastoidite; Otite; Polimorfismo Genético

Palavras-chave

Immunodeficiency; NEMO; NF-κB essential modulator; NF-κB pathway; toll-like receptors

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudomonas / Infecções por Pseudomonas / Displasia Ectodérmica / Imunodeficiência de Variável Comum / Quinase I-kappa B / Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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