A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Rechavi, Erez; Lev, Atar; Eyal, Eran; Barel, Ortal; Kol, Nitzan; Barhom, Sarit Farage; Pode-Shakked, Ben; Anikster, Yair; Somech, Raz; Simon, Amos J

Rechavi, Erez; Lev, Atar; Eyal, Eran; Barel, Ortal; Kol, Nitzan; Barhom, Sarit Farage; Pode-Shakked, Ben; Anikster, Yair; Somech, Raz; Simon, Amos J.

Afiliação

Rechavi E; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Lev A; Edmond and Lily Safra Children's Hospital, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Eyal E; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Barel O; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Kol N; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Barhom SF; Cancer Research Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Pode-Shakked B; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Anikster Y; Cancer Research Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Somech R; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.
Simon AJ; Cancer Research Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.

J Clin Immunol ; 36(8): 801-809, 2016 11.

Article em En | MEDLINE | ID: mdl-27734333

Assuntos

Centrômero/genética; Instabilidade Cromossômica/genética; DNA (Citosina-5-)-Metiltransferases/genética; Face/anormalidades; Síndromes de Imunodeficiência/genética; Mutação de Sentido Incorreto/genética; Linfócitos B/imunologia; Linfócitos T CD4-Positivos/imunologia; Linfócitos T CD8-Positivos/imunologia; Pré-Escolar; Instabilidade Cromossômica/imunologia; Feminino; Humanos; Síndromes de Imunodeficiência/imunologia; Lactente; Masculino; Fenótipo; DNA Metiltransferase 3B

Palavras-chave

DNMT3B; ICF; Immunodeficiency; KREC; TREC; centromeric instability and facial anomalies syndrome; hypogammaglobulinemia

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Base de dados: MEDLINE Assunto principal: Centrômero / Mutação de Sentido Incorreto / Instabilidade Cromossômica / DNA (Citosina-5-)-Metiltransferases / Face / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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