Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations - 01/03/14
Doi : 10.1016/j.jaci.2013.11.038
Karin Chen, MD a 
, Wilfred Wu, MD b, Divij Mathew, BA c, Yuhua Zhang, PhD d, Sarah K. Browne, MD e, Lindsey B. Rosen, BS e, Meghann P. McManus, DO f, Michael A. Pulsipher, MD f, Mark Yandell, PhD b, John F. Bohnsack, MD a, Lynn B. Jorde, PhD b, Luigi D. Notarangelo, MD c, g, Jolan E. Walter, MD, PhD c, h
, Wilfred Wu, MD b, Divij Mathew, BA c, Yuhua Zhang, PhD d, Sarah K. Browne, MD e, Lindsey B. Rosen, BS e, Meghann P. McManus, DO f, Michael A. Pulsipher, MD f, Mark Yandell, PhD b, John F. Bohnsack, MD a, Lynn B. Jorde, PhD b, Luigi D. Notarangelo, MD c, g, Jolan E. Walter, MD, PhD c, h a Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah
b Department of Human Genetics, University of Utah, Salt Lake City, Utah
c Division of Immunology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Mass
d RUCDR, Rutgers University, Piscataway, NJ
e Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
f Division of Hematology/Blood and Marrow Transplantation, University of Utah School of Medicine, Salt Lake City, Utah
g Harvard Stem Cell Institute, Harvard Medical School, Boston, Mass
h Pediatric Immunodeficiency Program, Division of Allergy, Massachusetts General Hospital for Children, Boston, Mass
| This work was partly supported by the National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH) (grant no. 5P01AI076210-04 and grant no. U54AI082973 to L.D.N.), the Manton Foundation (to L.D.N.), the March of Dimes (grant no. 6-FY10-282 to L.D.N.), the Jeffrey Modell Foundation (to L.D.N.), and the Division of Intramural Research, NIAID, NIH (to L.B.R. and S.K.B.). J.E.W. has NIH funding for the evaluation of immune deficiencies (grant no. 1K08AI103035-01). L.B.J. is supported by the NIH (grant no. GM59290) and the Utah Genome Project. DNA extraction was performed by the University of Utah Center for Clinical & Translational Science Translational Technologies & Resources core. |
|
| Disclosure of potential conflict of interest: J. E. Walter has received federal funding and support from private foundations, is employed by Massachusetts General Hospital, and has received research support from the National Institute of Allergy and Infectious Diseases. L. D. Notarangelo has received federal funding and support from private foundations, is a board member for a program in Cellular and Molecular Medicine and the Pediatric University Hospital in Florence, is employed by Boston Children's Hospital, has received research support from the National Institutes of Health and the March of Dimes, and receives royalties from UpToDate. The rest of the authors declare that they have no relevant conflicts of interest. |
© 2013
Publié par Elsevier Masson SAS.
Vol 133 - N° 3
P. 880 - mars 2014 Retour au numéro
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