Assessing the Functional Relevance of Variants in the <i>IKAROS Family Zinc Finger Protein 1</i> (<i>IKZF1</i>) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian, Zoya; Fliegauf, Manfred; Bulashevska, Alla; Proietti, Michele; Hague, Rosie; Smulski, Cristian Roberto; Schubert, Desirée; Warnatz, Klaus; Grimbacher, Bodo

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian, Zoya; Fliegauf, Manfred; Bulashevska, Alla; Proietti, Michele; Hague, Rosie; Smulski, Cristian Roberto; Schubert, Desirée; Warnatz, Klaus; Grimbacher, Bodo.

Afiliación

Eskandarian Z; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
Fliegauf M; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
Bulashevska A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
Proietti M; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University of Freiburg, Freiburg, Germany.
Hague R; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
Smulski CR; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
Schubert D; Royal Hospital for Children, Glasgow, United Kingdom.
Warnatz K; Department of Medical Physics, Centro Atómico Bariloche, CONICET, San Carlos de Bariloche, Argentina.
Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.

Front Immunol ; 10: 568, 2019.

Article en En | MEDLINE | ID: mdl-31057532

Asunto(s)

Inmunodeficiencia Variable Común/genética; Factor de Transcripción Ikaros/genética; Mutación; Infecciones del Sistema Respiratorio/genética; Dedos de Zinc; Adulto; Animales; Anticuerpos/inmunología; Sitios de Unión/genética; Núcleo Celular/metabolismo; Centrómero/metabolismo; Estudios de Cohortes; Inmunodeficiencia Variable Común/inmunología; ADN/metabolismo; Análisis Mutacional de ADN; Femenino; Células HEK293; Heterocigoto; Humanos; Factor de Transcripción Ikaros/metabolismo; Enfermedades Inflamatorias del Intestino/genética; Masculino; Ratones; Persona de Mediana Edad; Células 3T3 NIH; Linaje; Fenotipo; Infecciones del Sistema Respiratorio/inmunología

Palabras clave

CVID; IKAROS; TRAIL DNA binding; monogenic defects; nuclear localization

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Dedos de Zinc / Inmunodeficiencia Variable Común / Factor de Transcripción Ikaros / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Front Immunol Año: 2019 Tipo del documento: Article País de afiliación: Alemania

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