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A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D.
Afiliação
  • Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA. hyesun.kuehn@nih.gov.
  • Bernasconi A; Department of Immunology, "Juan P. Garrahan" National Hospital of Pediatrics, Buenos Aires, Argentina.
  • Niemela JE; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.
  • Almejun MB; Department of Immunology, "Juan P. Garrahan" National Hospital of Pediatrics, Buenos Aires, Argentina.
  • Gallego WAF; Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, UDEA, Medellín, Colombia.
  • Goel S; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.
  • Stoddard JL; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.
  • Sánchez RGP; Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, UDEA, Medellín, Colombia.
  • Franco CAA; Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, UDEA, Medellín, Colombia.
  • Oleastro M; Department of Immunology, "Juan P. Garrahan" National Hospital of Pediatrics, Buenos Aires, Argentina.
  • Grunebaum E; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.
  • Ballas Z; Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
  • Cunningham-Rundles C; Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Fleisher TA; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.
  • Franco JL; Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, UDEA, Medellín, Colombia.
  • Danielian S; Department of Immunology, "Juan P. Garrahan" National Hospital of Pediatrics, Buenos Aires, Argentina.
  • Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA. srosenzweig@cc.nih.gov.
J Clin Immunol ; 40(8): 1093-1101, 2020 11.
Article em En | MEDLINE | ID: mdl-32813180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Agamaglobulinemia / Subunidade p52 de NF-kappa B / Estudos de Associação Genética / Haploinsuficiência / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Immunol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Agamaglobulinemia / Subunidade p52 de NF-kappa B / Estudos de Associação Genética / Haploinsuficiência / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Immunol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos