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New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato, María; Aracil Santos, Francisco Javier; Briones, Alejandro Contreras; Blázquez Moreno, Alfonso; Del Pozo Maté, Ángela; Domínguez-Soto, Ángeles; Beato Merino, María José; Del Pino Molina, Lucía; Torres Canizales, Juan; Marin, Ana Victoria; Vallespín García, Elena; Feito Rodríguez, Marta; Plaza López Sabando, Diego; Jiménez-Reinoso, Anaïs; Mozo Del Castillo, Yasmina; Sanz Santaeufemia, Francisco José; de Lucas-Laguna, Raúl; Cárdenas, Paula P; Casamayor Polo, Laura; Coronel Díaz, María; Valés-Gómez, Mar; Roldán Santiago, Ernesto; Ferreira Cerdán, Antonio; Nevado Blanco, Julián; Corbí, Ángel L; Reyburn, Hugh T; Regueiro, José Ramón; López-Granados, Eduardo; Rodríguez Pena, Rebeca.
Affiliation
  • Bravo García-Morato M; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org.
  • Aracil Santos FJ; Department of Pediatrics, Hospital Universitario La Paz, Madrid, Spain.
  • Briones AC; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
  • Blázquez Moreno A; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain.
  • Del Pozo Maté Á; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain.
  • Domínguez-Soto Á; Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain.
  • Beato Merino MJ; Department of Pathologic Anatomy, Hospital Universitario La Paz, Madrid, Spain.
  • Del Pino Molina L; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Torres Canizales J; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Marin AV; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
  • Vallespín García E; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain.
  • Feito Rodríguez M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
  • Plaza López Sabando D; Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain.
  • Jiménez-Reinoso A; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
  • Mozo Del Castillo Y; Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain.
  • Sanz Santaeufemia FJ; Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain.
  • de Lucas-Laguna R; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
  • Cárdenas PP; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
  • Casamayor Polo L; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain.
  • Coronel Díaz M; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain.
  • Valés-Gómez M; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain.
  • Roldán Santiago E; Department of Immunology, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Ferreira Cerdán A; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Nevado Blanco J; Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain.
  • Corbí ÁL; Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain.
  • Reyburn HT; Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain.
  • Regueiro JR; Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
  • López-Granados E; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Rodríguez Pena R; Department of Immunology, Hospital Universitario La Paz, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
J Allergy Clin Immunol ; 141(5): 1924-1927.e18, 2018 05.
Article in En | MEDLINE | ID: mdl-29408330
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uniparental Disomy / Interferon Regulatory Factors / Immunologic Deficiency Syndromes Limits: Animals / Female / Humans / Infant Language: En Journal: J Allergy Clin Immunol Year: 2018 Document type: Article
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uniparental Disomy / Interferon Regulatory Factors / Immunologic Deficiency Syndromes Limits: Animals / Female / Humans / Infant Language: En Journal: J Allergy Clin Immunol Year: 2018 Document type: Article