Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman, Isaac J; van Montfrans, Joris M; Hoogstraat, Marlous; Boes, Marianne L; van de Corput, Lisette; Renner, Ellen D; van Zon, Patrick; van Lieshout, Stef; Elferink, Martin G; van der Burg, Mirjam; Vermont, Clementien L; van der Zwaag, Bert; Janson, Esther; Cuppen, Edwin; Ploos van Amstel, Johannes K; van Gijn, Marielle E

Nijman, Isaac J; van Montfrans, Joris M; Hoogstraat, Marlous; Boes, Marianne L; van de Corput, Lisette; Renner, Ellen D; van Zon, Patrick; van Lieshout, Stef; Elferink, Martin G; van der Burg, Mirjam; Vermont, Clementien L; van der Zwaag, Bert; Janson, Esther; Cuppen, Edwin; Ploos van Amstel, Johannes K; van Gijn, Marielle E.

Afiliação

Nijman IJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
Hoogstraat M; Department of Medical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Boes ML; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
van de Corput L; Department of Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
Renner ED; Department of Immunology, University Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
van Zon P; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Lieshout S; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Elferink MG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Burg M; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Vermont CL; Department of Pediatric Infectious Diseases, Immunology and Stem Cell Transplantation, Leiden University Medical Center, Leiden, The Netherlands.
van der Zwaag B; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Janson E; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Cuppen E; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Ploos van Amstel JK; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Gijn ME; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: m.e.vangijn@umcutrecht.nl.

J Allergy Clin Immunol ; 133(2): 529-34, 2014 Feb.

Article em En | MEDLINE | ID: mdl-24139496

Assuntos

Sequenciamento de Nucleotídeos em Larga Escala; Síndromes de Imunodeficiência/genética; Análise de Sequência de DNA; Adolescente; Adulto; Criança; Predisposição Genética para Doença; Humanos; Síndromes de Imunodeficiência/diagnóstico; Masculino; Mutação

Palavras-chave

ALPS; Autoimmune lymphoproliferative syndrome; CID; Combined immunodeficiency; HLH; Hemophagocytic lymphohistiocytosis; IUIS; International Union of Immunodeficiency Societies; NGS; Next-generation sequencing; PID; Primary immunodeficiency; SNV; Single nucleotide variant; diagnosis; genetics; next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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