A RAB27A 5? untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation - 04/07/18
Doi : 10.1016/j.jaci.2018.02.031
Bianca Tesi, MD, PhD a, b 
, Jelena Rascon, MD, PhD c, d , Samuel C.C. Chiang, PhD e, ∗, Birute Burnyte, PhD f, Alexandra Löfstedt, MD a, b, Anders Fasth, MD, PhD g, Miriam Heizmann, Mbiol h, i, Sandra Juozapaite, MD d, Rosita Kiudeliene, MD j, Egle Kvedaraite, MD a, Valdone Miseviciene, MD k, Audrone Muleviciene, MD c, d, Martha-Lena Müller, PhD e, ∗, Magnus Nordenskjöld, MD, PhD b, Reda Matuzeviciene, MD, PhD l, m, Ruta Samaitiene, MD, PhD d, n, Carsten Speckmann, MD h, Sigita Stankeviciene, MD c, Vytautas Zekas, MD d, Matthias Voss, PhD e, Stephan Ehl, MD, PhD h, Nerija Vaiciene-Magistris, MD, PhD o, Jan-Inge Henter, MD, PhD a, Marie Meeths, MD, PhD a, b, ‡, Yenan T. Bryceson, PhD e, p, ‡
, Jelena Rascon, MD, PhD c, d , Samuel C.C. Chiang, PhD e, ∗, Birute Burnyte, PhD f, Alexandra Löfstedt, MD a, b, Anders Fasth, MD, PhD g, Miriam Heizmann, Mbiol h, i, Sandra Juozapaite, MD d, Rosita Kiudeliene, MD j, Egle Kvedaraite, MD a, Valdone Miseviciene, MD k, Audrone Muleviciene, MD c, d, Martha-Lena Müller, PhD e, ∗, Magnus Nordenskjöld, MD, PhD b, Reda Matuzeviciene, MD, PhD l, m, Ruta Samaitiene, MD, PhD d, n, Carsten Speckmann, MD h, Sigita Stankeviciene, MD c, Vytautas Zekas, MD d, Matthias Voss, PhD e, Stephan Ehl, MD, PhD h, Nerija Vaiciene-Magistris, MD, PhD o, Jan-Inge Henter, MD, PhD a, Marie Meeths, MD, PhD a, b, ‡, Yenan T. Bryceson, PhD e, p, ‡ a Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
b Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
c Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania
d Faculty of Medicine, Vilnius University, Vilnius, Lithuania
e Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden
f Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
g Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
h Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany
i Faculty of Biology, University of Freiburg, Freiburg, Germany
j Lithuanian University of Health Sciences (LUHS), Center of Pediatric Oncology and Hematology at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania
k LUHS, Center of Chronic Respiratory Diseases in Children at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania
l Department of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
m Centre of Laboratory Medicine, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
n LUHS, Neurology Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania
o Child Neurology Department at Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
p Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway
| This work was supported by a grant from the European Research Council (ERC) under the European Union's Seventh Framework Programme (grant no. FP/2007-2013; ERC grant agreement no. 311335), the Norwegian Research Council, the Swedish Foundation for Strategic Research, the Wallenberg Foundation, the Karolinska Institutet Center for Innovative Medicine (Y.T.B.), the Swedish Childhood Cancer Foundation (J.-I.H., Y.T.B., M.M.), as well as the Stockholm County Council, the Swedish Cancer Foundation, and the Swedish Research Council (J.-I.H., Y.T.B.), the Cancer and Allergy Foundation of Sweden (J.-I.H.), the German Ministry of Education and Research (grant no. BMBF 01EO1303), and the German Research Foundation (grant no. SFB1160, TP1; S.E.). B.T. is also supported by a doctoral student scholarship from the Board of Postgraduate Studies at Karolinska Institutet. Computations were performed on resources provided by the Swedish National Infrastructure for Computing (SNIC) through the Uppsala Multidisciplinary Center for Advanced Computational Science under Project SNIC b2012204 and b2015280. |
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| Disclosure of potential conflict of interest: S. Ehl reports a grant from Deutsche Forschungsgemeinschaft (grant no. SFB1160 TP4) and a grant from BMBF (grant no. BMBF 01EO1303) during the conduct of the study and grants from Union Chimique Belge outside the submitted work. J.-I. Henter reports grants from the Swedish Childhood Cancer Foundation, the Swedish Cancer Foundation, the Swedish Research Council, the Stockholm County Council, and the Cancer and Allergy Foundation of Sweden during the conduct of the study. M. Meeths reports grants from the Swedish Childhood Cancer Foundation during the conduct of the study. The rest of the authors declare that they have no relevant conflicts of interest. |
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The Authors. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 142 - N° 1
P. 317 - juillet 2018 Retour au numéro
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