Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1 - 19/04/17
Doi : 10.1016/j.jaci.2016.09.050
Emma M. Haapaniemi, MD a, b, c 
, Christopher L. Fogarty, MSc b, d, e, Salla Keskitalo, MSc f, Shintaro Katayama, PhD a, g, h, Helena Vihinen, DSc i, Mette Ilander, PhD j, k, Satu Mustjoki, MD j, k, Kaarel Krjutškov, PhD a, g, l, Markku Lehto, PhD b, d, e, Timo Hautala, MD m, Ove Eriksson, PhD n, Eija Jokitalo, PhD i, Vidya Velagapudi, PhD o, Markku Varjosalo, PhD f, Mikko Seppänen, MD p, ∗, Juha Kere, MD a, b, c, g, ∗
, Christopher L. Fogarty, MSc b, d, e, Salla Keskitalo, MSc f, Shintaro Katayama, PhD a, g, h, Helena Vihinen, DSc i, Mette Ilander, PhD j, k, Satu Mustjoki, MD j, k, Kaarel Krjutškov, PhD a, g, l, Markku Lehto, PhD b, d, e, Timo Hautala, MD m, Ove Eriksson, PhD n, Eija Jokitalo, PhD i, Vidya Velagapudi, PhD o, Markku Varjosalo, PhD f, Mikko Seppänen, MD p, ∗, Juha Kere, MD a, b, c, g, ∗ a Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
b Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland
c Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
d Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
e Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland
f Institute of Biotechnology, University of Helsinki, Helsinki, Finland
g Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden
h Science for Life Laboratory, Solna, Sweden
i Institute of Biotechnology, Electron Microscopy Unit, University of Helsinki, Helsinki, Finland
j Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland
k Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland
l Competence Centre on Health Technologies, Tartu, Estonia
m Oulu University Hospital, Oulu, Finland
n Faculty of Medicine, Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland
o Metabolomics Unit, Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland
p Rare Disease Center, Children's Hospital and Adult Immunodeficiency Unit, Inflammation Center, Helsinki University and Helsinki University Hospital, Helsinki, Finland
| The Academy of Finland, Finnish Medical Foundation, Sigrid Juselius Foundation, Karolinska Institutet Research Foundation, Swedish Research Council, and Strategic Research Programme in Diabetes supported this work. |
|
| Disclosure of potential conflict of interest: C. L. Fogarty has received board membership and is employed by Bug ID Oy and has received consultancy fees from Bain and Company. S. Mustjoki's institution has received a grant from Academy of Finland and Sigrid Juselius Foundation for the work under consideration; he has received consultancy fees from Novartis, BMS, and Pfizer for work outside of this work; his institution has received grants from Pfizer for other work; and he has received payment for lectures from Novartis, BMS, and Pfizer. T. Hautala has received honoraria from CSL Behring and Octapharma. M. Seppänen has received honoraria from Baxter, CSL Behring, Octapharma, and Sanquin. J. Kere's institution has received a grant as stated on the manuscript. The rest of the authors declare that they have no relevant conflicts of interest. |
© 2016
The Authors. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 139 - N° 4
P. 1391 - avril 2017 Retour au numéro
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