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Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
Willmann, Katharina L; Klaver, Stefanie; Dogu, Figen; Santos-Valente, Elisangela; Garncarz, Wojciech; Bilic, Ivan; Mace, Emily; Salzer, Elisabeth; Conde, Cecilia Domínguez; Sic, Heiko; Májek, Peter; Banerjee, Pinaki P; Vladimer, Gregory I; Haskologlu, Sule; Bolkent, Musa Gökalp; Küpesiz, Alphan; Condino-Neto, Antonio; Colinge, Jacques; Superti-Furga, Giulio; Pickl, Winfried F; van Zelm, Menno C; Eibel, Hermann; Orange, Jordan S; Ikinciogullari, Aydan; Boztug, Kaan.
Afiliação
  • Willmann KL; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Klaver S; 1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria [2] Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-900, Brazil.
  • Dogu F; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey.
  • Santos-Valente E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Garncarz W; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Bilic I; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Mace E; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.
  • Salzer E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Conde CD; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Sic H; Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg 79180, Germany.
  • Májek P; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Banerjee PP; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.
  • Vladimer GI; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Haskologlu S; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey.
  • Bolkent MG; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey.
  • Küpesiz A; Department of Pediatric Hematology, Akdeniz University Medical School, Antalya 07985, Turkey.
  • Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-900, Brazil.
  • Colinge J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Superti-Furga G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.
  • Pickl WF; Christian Doppler Laboratory for Immunomodulation and Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna 1090, Austria.
  • van Zelm MC; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam 3015GE, The Netherlands.
  • Eibel H; Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg 79180, Germany.
  • Orange JS; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.
  • Ikinciogullari A; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey.
  • Boztug K; 1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria [2] Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna 1090, Austria.
Nat Commun ; 5: 5360, 2014 Nov 19.
Article em En | MEDLINE | ID: mdl-25406581
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Agamaglobulinemia / Linfopenia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Agamaglobulinemia / Linfopenia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria País de publicação: Reino Unido