Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome

• Adam G. W. Matthews,

  Affiliations Department of Molecular Biology, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, MA 02114, United States of America, Department of Biological Sciences, Wellesley College, 106 Central St., Wellesley, MA, 02481, United States of America

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• Christine E. Briggs,

  Current address: GeneSys Research Institute / Tufts University School of Medicine, Boston, United States of America

  Affiliation Molecular Genetics Core Facility, Children’s Hospital Boston, Boston, MA 02115, United States of America

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• Keiichi Yamanaka,

  Affiliation Department of Dermatology, Mie University, Graduate School of Medicine, Mie 514–8507, Japan

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• Trudy N. Small †,

  † Deceased.

  Affiliation Bone Marrow Transplant Service, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, United States of America

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• Jana L. Mooster,

  Affiliation Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Boston Children’s Hospital, Boston, MA 02115, United States of America

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• Francisco A. Bonilla,

  Affiliation Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Boston Children’s Hospital, Boston, MA 02115, United States of America

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• Marjorie A. Oettinger,

  Affiliation Department of Molecular Biology, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, MA 02114, United States of America

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• Manish J. Butte

  * E-mail: manish.butte@stanford.edu

  Affiliation Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Stanford University, 300 Pasteur Drive, Stanford, CA 94305, United States of America

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