A novel mutation in the POLE2 gene causing combined immunodeficiency

Affiliations

• ¹ Division of Immunology, Boston Children's Hospital, Boston, Mass.
• ² Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
• ³ Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
• ⁴ New York Genome Center, New York, NY.
• ⁵ Angelo Nocivelli Institute of Molecular Medicine, University of Brescia, Brescia, Italy.
• ⁶ Department of Genetics, Boston Children's Hospital, Boston, Mass.
• ⁷ Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass.
• ⁸ Division of Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, Mass.
• ⁹ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, University Paris Descartes, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France.
• ¹⁰ Division of Immunology, Boston Children's Hospital, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address: luigi.notarangelo@childrens.harvard.edu.
• ¹¹ Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address: manis@enders.tch.harvard.edu.