Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1 - 05/05/21
Doi : 10.1016/j.jaci.2021.01.027
Patrick Kury, MSc a, b, ∗, Julian Staniek, MSc b, c, ∗, Oliver Wegehaupt, MD d, Iga Janowska, MSc c, Matthias Eckenweiler, MD d, Rudolf Korinthenberg, MD e, Natia Japaridze, MD f, Manuela Pendziwiat, MSc f, g, Ingo Helbig, MD g, h, i, j, k, Els Verhoeyen, PhD l, m, Johannes Jung, MD, PhD n, Andres Caballero Garcia de Oteyza, PhD a, Michele Proietti, MD, PhD a, Tamar Phirtskhalaishvili, MD o, Irakli Rtskhiladze, MD o, Peter J. Nielsen, PhD p, Stephan Ehl, MD a, Carsten Speckmann, MD a, d, ‡ 
, Marta Rizzi, MD, PhD c, q, ‡
, Marta Rizzi, MD, PhD c, q, ‡ a Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Germany
b University of Freiburg, Faculty of Biology, Freiburg, Germany
c Department of Rheumatology and Clinical Immunology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Germany
d Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
e Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, Faculty of Medicine, University Medical Center, University of Freiburg, Germany
f Department of Neuropediatrics, Children’s Hospital, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany
g Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
h Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa
i The Epilepsy NeuroGenetics Initiative, Children’s Hospital of Philadelphia, Philadelphia, Pa
j Department of Biomedical and Health Informatics (DBHi), Children’s, Hospital of Philadelphia, Philadelphia, Pa
k Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pa
l CIRI, Université de Lyon, INSERM U1111, ENS de Lyon, Université Lyon, CNRS, UMR 5308, Lyon, France
m Université Côte d’Azur, INSERM, C3M, Nice, France
n Department of Medicine I (Hematology, Oncology and Stem Cell Transplantation), the Medical Center, Faculty of Medicine, University of Freiburg, Germany
o Medical Center Mrcheveli, Tbilisi, Georgia
p Institute of Molecular Health Sciences, ETH Zürich, Zürich, Switzerland
q Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Germany
| Supported by a grant from the German Research Foundation (DFG) (SFB1160: B02 [to M.R.] and A01 [to S.E.]). S.E. was supported by the DFG under Germany`s Excellence Strategy (CIBSS–EXC-2189; Project identifier 390939984). The research was also supported by intramural funds of the Children’s Hospital of Philadelphia through the Epilepsy NeuroGenetics Initiative, the DFG (HE5415/5-1 and HE5415/6-1 [to I.H.]), the DFG Research Unit FOR2715 (HE5415/7-1 [to I.H.]), and the Else Kröner-Fresenius-Stiftung (personal grant to J.J.). The authors are responsible for the contents of this publication. |
|
| Disclosure of potential conflict of interest: 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 147 - N° 5
P. 1977-1980 - mai 2021 Retour au numéro
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