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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk, Anna; Pollak, Agnieszka; Gawalski, Karol; Szczawinska-Poplonyk, Aleksandra; Rydzynska, Zuzanna; Sosnowska, Anna; Cukrowska, Bozena; Gasperowicz, Piotr; Konopka, Ewa; Pietrucha, Barbara; Grzywa, Tomasz M; Banaszak-Ziemska, Magdalena; Niedziela, Marek; Skalska-Sadowska, Jolanta; Stawinski, Piotr; Sladowski, Dariusz; Nowis, Dominika; Ploski, Rafal.
Afiliação
  • Materna-Kiryluk A; Polish Registry of Congenital Malformations, Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 61-701, Poland.
  • Pollak A; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
  • Gawalski K; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
  • Szczawinska-Poplonyk A; Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
  • Rydzynska Z; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
  • Sosnowska A; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
  • Cukrowska B; Laboratory of Immunology, Department of Pathology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
  • Gasperowicz P; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
  • Konopka E; Laboratory of Immunology, Department of Pathology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
  • Pietrucha B; Department of Clinical Immunology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
  • Grzywa TM; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
  • Banaszak-Ziemska M; The Doctoral School of the Medical University of Warsaw, Warsaw 02-091, Poland.
  • Niedziela M; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
  • Skalska-Sadowska J; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
  • Stawinski P; Department of Pediatric Oncology, Hematology and Transplantology University of Medical Sciences, Poznan 61-854, Poland.
  • Sladowski D; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
  • Nowis D; Department of Transplantology and Central Tissue Bank, Centre for Biostructure, Medical University of Warsaw, Warsaw 02-004, Poland.
  • Ploski R; Laboratory of Experimental Medicine, Medical University of Warsaw, Warsaw 02-097, Poland.
Hum Mol Genet ; 30(3-4): 226-233, 2021 04 26.
Article em En | MEDLINE | ID: mdl-33517393
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Deleção de Sequência / Receptor gp130 de Citocina / Doenças Hereditárias Autoinflamatórias / Síndromes de Imunodeficiência Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Deleção de Sequência / Receptor gp130 de Citocina / Doenças Hereditárias Autoinflamatórias / Síndromes de Imunodeficiência Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia