Selective loss of function variants in <i>IL6ST</i> cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Köstel; Conde, Cecilia Domínguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betül; Cetinkaya, Pinar Gur; Esenboga, Saliha; Twigg, Stephen R F; Cant, Andrew; Wilkie, Andrew O M; Tezcan, Ilhan; Uhlig, Holm H; Boztug, Kaan

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Köstel; Conde, Cecilia Domínguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betül; Cetinkaya, Pinar Gur; Esenboga, Saliha; Twigg, Stephen R F; Cant, Andrew; Wilkie, Andrew O M; Tezcan, Ilhan; Uhlig, Holm H; Boztug, Kaan.

Afiliação

Shahin T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Aschenbrenner D; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Cagdas D; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.
Bal SK; Section of Pediatric Immunology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.
Conde CD; Institute of Child Health, Hacettepe University, Ankara, Turkey.
Garncarz W; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Medgyesi D; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Schwerd T; Department of Pediatric Allergy and Immunology, Ankara University School of Medicine, Cebeci, Turkey.
Karaatmaca B; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Cetinkaya PG; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Esenboga S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Twigg SRF; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Cant A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Wilkie AOM; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Tezcan I; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.
Uhlig HH; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Germany.
Boztug K; Section of Pediatric Immunology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

Haematologica ; 104(3): 609-621, 2019 03.

Article em En | MEDLINE | ID: mdl-30309848

Assuntos

Receptor gp130 de Citocina/genética; Síndrome de Job/diagnóstico; Síndrome de Job/etiologia; Mutação com Perda de Função; Subpopulações de Linfócitos T/imunologia; Subpopulações de Linfócitos T/metabolismo; Biomarcadores; Diferenciação Celular/genética; Criança; Pré-Escolar; Receptor gp130 de Citocina/química; Análise Mutacional de DNA; Suscetibilidade a Doenças; Estudos de Associação Genética; Humanos; Imunofenotipagem; Síndrome de Job/metabolismo; Ativação Linfocitária; Masculino; Modelos Moleculares; Linhagem; Fenótipo; Conformação Proteica; Radiografia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Subpopulações de Linfócitos T / Receptor gp130 de Citocina / Mutação com Perda de Função / Síndrome de Job Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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