Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, J

Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, J.

Afiliação

Marquardt L; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Lacour M; Paediatric Practice, Carouge, Switzerland.
Hoernes M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Opitz L; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Lecca R; Functional Genomics Center Zurich, Zurich, Switzerland.
Volkmer B; Functional Genomics Center Zurich, Zurich, Switzerland.
Reichenbach J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Hohl D; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Ansari M; Department of Dermatology, University Hospital of Lausanne, Lausanne, Switzerland.
Ozsahin H; Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
Güngör T; Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
Pachlopnik Schmid J; Division of Stem Cell Transplantation, University Children's Hospital Zurich, Zurich, Switzerland.

J Eur Acad Dermatol Venereol ; 31(3): e147-e148, 2017 Mar.

Article em En | MEDLINE | ID: mdl-27593400

Assuntos

Dermatite Esfoliativa/diagnóstico; Sequenciamento do Exoma/métodos; Imunidade Celular; Subunidade alfa de Receptor de Interleucina-7/genética; Mutação; Triagem Neonatal/métodos; Imunodeficiência Combinada Severa/diagnóstico; DNA/genética; Análise Mutacional de DNA; Dermatite Esfoliativa/etiologia; Dermatite Esfoliativa/imunologia; Feminino; Humanos; Lactente; Recém-Nascido; Subunidade alfa de Receptor de Interleucina-7/metabolismo; Linhagem; Fenótipo; Imunodeficiência Combinada Severa/complicações; Imunodeficiência Combinada Severa/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Imunodeficiência Combinada Severa / Dermatite Esfoliativa / Subunidade alfa de Receptor de Interleucina-7 / Sequenciamento do Exoma / Imunidade Celular / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Screening_studies Limite: Female / Humans / Infant / Newborn Idioma: En Revista: J Eur Acad Dermatol Venereol Assunto da revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça

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