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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Authors:Yu Nee Lee  Francesco Frugoni  Kerry Dobbs  Jolan E. Walter  Silvia Giliani  Andrew R. Gennery  Waleed Al-Herz  Elie Haddad  Francoise LeDeist  Jack H. Bleesing  Lauren A. Henderson  Sung-Yun Pai  Robert P. Nelson  Dalia H. El-Ghoneimy  Reem A. El-Feky  Shereen M. Reda  Elham Hossny  Pere Soler-Palacin  Ramsay L. Fuleihan  Niraj C. Patel  Michel J. Massaad  Raif S. Geha  Jennifer M. Puck  Paolo Palma  Caterina Cancrini  Karin Chen  Mauno Vihinen  Frederick W. Alt  Luigi D. Notarangelo
Affiliation:1. Division of Immunology and Manton Center for Orphan Disease Research, Children''s Hospital, Harvard Medical School, Boston, Mass;2. Division of Pediatric Allergy/Immunology, Massachusetts General Hospital for Children, Boston, Mass;3. A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and the Section of Genetics, Department of Pathology Spedali Civili, Brescia, Italy;4. Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust, United Kingdom and Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;5. Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait;6. Department of Pediatrics and Department of Microbiology, Infectiology and Immunology, University of Montreal, CHU Sainte-Justine Research Center, Montreal, Quebec, Canada;g Division of Hematology/Oncology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio;h Division of Hematology-Oncology, Boston Children’s Hospital, Boston, Mass;i Divisions of Hematology and Oncology, Indiana University School of Medicine, Indianapolis, Ind;j Department of Pediatric Allergy and Immunology, Children’s Hospital, Faculty of Medicine, Ain Shams University, Cairo, Egypt;k Paediatric Infectious Diseases and Immunodeficiencies Unit, Vall d''Hebron University Hospital, Barcelona, Spain;l Division of Allergy and Immunology, Ann & Robert H. Lurie Children''s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Ill;m Immunology Clinic, Levine Children''s Hospital, Carolinas Medical Center, Charlotte, NC;n Department of Pediatrics, University of California San Francisco and UCSF Benioff Children''s Hospital, San Francisco, Calif;o DPUO, University Department of Pediatrics, Bambino Gesù Children’s Hospital and University of Tor Vergata School of Medicine, Rome, Italy;p Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah;q Department of Experimental Medical Science, Lund University, Lund, Sweden;r Howard Hughes Medical Institute, Program in Cellular and Molecular Medicine, Boston Children''s Hospital, and the Department of Genetics, Harvard Medical School, Boston, Mass
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