title: A novel mutation in the POLE2 gene causing combined immunodeficiency.
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Francesco
authors.initials: F
authors.lastname: Frugoni
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Kerry
authors.initials: K
authors.lastname: Dobbs
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Felgentreff
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Hasan
authors.initials: H
authors.lastname: Aldhekri
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Bandar K
authors.initials: BK
authors.lastname: Al Saud
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.affiliation: Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Afshan Ashraf
authors.initials: AA
authors.lastname: Ali
authors.affiliation: New York Genome Center, New York, NY.
authors.forename: Avinash
authors.initials: A
authors.lastname: Abhyankar
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Fayhan
authors.initials: F
authors.lastname: Alroqi
authors.affiliation: Angelo Nocivelli Institute of Molecular Medicine, University of Brescia, Brescia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.affiliation: Department of Genetics, Boston Children's Hospital, Boston, Mass.
authors.forename: Mayra Martinez
authors.initials: MM
authors.lastname: Ojeda
authors.affiliation: Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass.
authors.forename: Erdyni
authors.initials: E
authors.lastname: Tsitsikov
authors.affiliation: Division of Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, Mass.
authors.forename: Sung-Yun
authors.initials: SY
authors.lastname: Pai
authors.affiliation: 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.
authors.forename: Jean Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address: luigi.notarangelo@childrens.harvard.edu.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: 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.
authors.forename: John P
authors.initials: JP
authors.lastname: Manis
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004257:DNA Polymerase II / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D008214:Lymphocytes / Q000276:immunology / Q000378:metabolism; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*
chemical_list: D004257:DNA Polymerase II