A novel mutation in the POLE2 gene causing combined immunodeficiency - 05/02/16

Doi : 10.1016/j.jaci.2015.06.049

Francesco Frugoni, PhD ^a, Kerry Dobbs, BS ^a, Kerstin Felgentreff, MD ^a, Hasan Aldhekri, MD ^b, Bandar K. Al Saud, MBBS ^b, Rand Arnaout, MBBS ^b, Afshan Ashraf Ali, MD ^c, Avinash Abhyankar, MD, PhD ^d, Fayhan Alroqi, MD ^a, Silvia Giliani, PhD ^e, Mayra Martinez Ojeda, MD ^f, Erdyni Tsitsikov, PhD ^g, Sung-Yun Pai, MD ^h, Jean Laurent Casanova, MD, PhD ^i,^j,^k,^l, Luigi D. Notarangelo, MD ^a,^m,^{^{∗
These authors contributed equally to this work.}} , John P. Manis, MD ^g,^n,^o,^{^{∗
These authors contributed equally to this work.}}
^a Division of Immunology, Boston Children's Hospital, Boston, Mass
^b Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
^c Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
^d New York Genome Center, New York, NY
^e Angelo Nocivelli Institute of Molecular Medicine, University of Brescia, Brescia, Italy
^f Department of Genetics, Boston Children's Hospital, Boston, Mass
^g Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass
^h Division of Pediatric Hematology–Oncology, Boston Children's Hospital, Boston, Mass
ⁱ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY
^j Laboratory of Human Genetics of Infectious Diseases, Necker Branch, University Paris Descartes, Imagine Institute, Paris, France
^k Howard Hughes Medical Institute, New York, NY
^l Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France
^m Harvard Stem Cell Institute, Harvard University, Boston, Mass
ⁿ Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass
^o Department of Pathology, Harvard Medical School, Boston, Mass

This work was supported by the National Institutes of Health (grant no. 5R01AI100887 to L.D.N. and grant no. R21AI87355 to J.P.M.).

Disclosure of potential conflict of interest: S.-Y. Pai has received research support from and is employed by Boston Children's Hospital. J. L. Casanova has received consultancy fees from Merck, Biogen Idec, Sanofi, Regereron, Bioaster, Pfizer, Novartis, and Genentech and has received research support from Merck Sharpe & Dohme Corp, Biogen Idec, and Pfizer. L. D. Notarangelo has received research support from the National Institutes of Health-National Institute of Allergy and Infectious Diseases (NIH-NIAID) and the March of Dimes; is a board member for the Journal of Allergy and Clinical Immunology and the Journal of Clinical Immunology; serves on the Data Safety Monitoring Board for Novimmune; has received consultancy fees from Sigma-Tau; is employed by Boston Children's Hospital; and has received royalties from UpToDate and Garland. The rest of the authors declare that they have no relevant conflicts of interest.

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Vol 137 - N° 2

P. 635 - février 2016 Retour au numéro

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A novel mutation in the POLE2 gene causing combined immunodeficiency - 05/02/16

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