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New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy
Authors:María Bravo García-Morato  Francisco Javier Aracil Santos  Alejandro Contreras Briones  Alfonso Blázquez Moreno  Ángela del Pozo Maté  Ángeles Domínguez-Soto  María José Beato Merino  Lucía del Pino Molina  Juan Torres Canizales  Ana Victoria Marin  Elena Vallespín García  Marta Feito Rodríguez  Diego Plaza López Sabando  Anaïs Jiménez-Reinoso  Yasmina Mozo del Castillo  Francisco José Sanz Santaeufemia  Raúl de Lucas-Laguna  Paula P. Cárdenas  Rebeca Rodríguez Pena
Affiliation:1. Department of Immunology, Hospital Universitario La Paz, Madrid, Spain;2. Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain;3. Department of Pediatrics, Hospital Universitario La Paz, Madrid, Spain;4. Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain;5. Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain;6. Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain;7. Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain;8. Department of Pathologic Anatomy, Hospital Universitario La Paz, Madrid, Spain;9. Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain;10. Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain;11. Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain;12. Department of Immunology, Hospital Universitario Ramón y Cajal, Madrid, Spain
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