Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Petrovski, Slavé; Parrott, Roberta E; Roberts, Joseph L; Huang, Hongxiang; Yang, Jialong; Gorentla, Balachandra; Mousallem, Talal; Wang, Endi; Armstrong, Martin; McHale, Duncan; MacIver, Nancie J; Goldstein, David B; Zhong, Xiao-Ping; Buckley, Rebecca H

Petrovski, Slavé; Parrott, Roberta E; Roberts, Joseph L; Huang, Hongxiang; Yang, Jialong; Gorentla, Balachandra; Mousallem, Talal; Wang, Endi; Armstrong, Martin; McHale, Duncan; MacIver, Nancie J; Goldstein, David B; Zhong, Xiao-Ping; Buckley, Rebecca H.

Afiliação

Petrovski S; Institute for Genomic Medicine, Columbia University, New York, NY, 10032, USA.
Parrott RE; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Roberts JL; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Huang H; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Yang J; Department of Oncology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Gorentla B; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Mousallem T; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Wang E; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, 127 MSRB1, Box 2898, Durham, NC, 27710, USA.
Armstrong M; Departments of Internal Medicine and Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
McHale D; Department of Pathology, Duke University Medical Center, Durham, NC, 27710, USA.
MacIver NJ; UCB NewMedicines, Slough, UK.
Goldstein DB; UCB NewMedicines, Slough, UK.
Zhong XP; Department of Pediatrics, Division of Endocrinology, Duke University Medical Center, Durham, NC, 27710, USA.
Buckley RH; Department of Immunology, Duke University Medical Center, Durham, NC, 27710, USA.

J Clin Immunol ; 36(5): 462-71, 2016 07.

Article em En | MEDLINE | ID: mdl-27076228

Assuntos

Linfócitos B/imunologia; Transtornos do Crescimento/genética; Síndrome de Imunodeficiência com Hiper-IgM/genética; Hipercalcemia/genética; Doenças Metabólicas/genética; Mutação/genética; Nefrocalcinose/genética; Fosfatidilinositol 3-Quinases/genética; Processamento Alternativo/genética; Linhagem Celular Transformada; Criança; Pré-Escolar; Classe Ia de Fosfatidilinositol 3-Quinase; Anormalidades Craniofaciais; Análise Mutacional de DNA; Nanismo; Orelha/anormalidades; Feminino; Genes Dominantes; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Linfadenopatia; Masculino; Pescoço/anormalidades; Proteínas Quinases S6 Ribossômicas/metabolismo; Transdução de Sinais/genética; Serina-Treonina Quinases TOR/metabolismo; Tórax/anormalidades

Palavras-chave

Hyper IgM syndrome; PIK3R1 splice site mutations; SHORT syndrome; lymphadenopathy; mTOR pathway; next generation sequencing; short stature

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos B / Fosfatidilinositol 3-Quinases / Síndrome de Imunodeficiência com Hiper-IgM / Transtornos do Crescimento / Hipercalcemia / Doenças Metabólicas / Mutação / Nefrocalcinose Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2016 Tipo de documento: Article

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