A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency - 06/06/19
Doi : 10.1016/j.jaci.2019.02.003
Stefano Volpi, MD, PhD a, b, ∗ 
, Maria Pia Cicalese, MD, PhD c, ∗, Paul Tuijnenburg, MD d, e, ∗, Anton T.J. Tool, PhD f, Eloy Cuadrado, PhD g, Marwan Abu-Halaweh bb, Hamid Ahanchian, MD h, Raed Alzyoud, MD i, Zeynep Coban Akdemir, PhD j, Federica Barzaghi, MD c, Alexander Blank, MD k, Bertrand Boisson, PhD l, m, n, Cristina Bottino, MD o, p, Immacolata Brigida, PhD c, Roberta Caorsi, MD a, Jean-Laurent Casanova, MD, PhD l, m, n, q, r, Sabrina Chiesa, PhD a, Ivan Kingyue Chinn, MD s, Gregor Dückers, MD t, Anselm Enders, MD u, Hans Christian Erichsen, MD v, Lisa R. Forbes, MD s, Tomasz Gambin, PhD j, w, Marco Gattorno, MD a, Ehsan Ghayoor Karimiani, MD, Mres, PhD x, y, Silvia Giliani, PhD z, Michael S. Gold, MD, FRACP, MbChB, FCP, DCH aa, Eva-Maria Jacobsen, PhD k, Machiel H. Jansen, BSc d, e, Jovanka R. King, PhD, FRACP, FRCPA, BMBS, B Pod, DCH, PhD aa, Ronald M. Laxer, MDCM, FRCPC cc, James R. Lupski, MD, PhD j, dd, ee, Emily Mace, PhD s, Stefania Marcenaro, PhD ff, Reza Maroofian, PhD gg, Alexander B. Meijer, PhD hh, Tim Niehues, MD t, Luigi D. Notarangelo, MD ii, Jordan Orange, MD, PhD, FAAAI s, Ulrich Pannicke, PhD jj, Chris Pearson, MD kk, Paolo Picco, MD ll, Patrick J. Quinn, MBBS, FRACP aa, Ansgar Schulz, MD k, Filiz Seeborg, MD s, Asbjørg Stray-Pedersen, MD, PhD mm, Hasan Tawamie, PhD nn, Ester M.M. van Leeuwen, MSc e, Alessandro Aiuti, MD, PhD c, ‡, Rae Yeung, MD, PhD, FRCPC cc, oo, pp, ‡, Klaus Schwarz, MD jj, qq, ‡, Taco W. Kuijpers, MD, PhD d, f, ‡
, Maria Pia Cicalese, MD, PhD c, ∗, Paul Tuijnenburg, MD d, e, ∗, Anton T.J. Tool, PhD f, Eloy Cuadrado, PhD g, Marwan Abu-Halaweh bb, Hamid Ahanchian, MD h, Raed Alzyoud, MD i, Zeynep Coban Akdemir, PhD j, Federica Barzaghi, MD c, Alexander Blank, MD k, Bertrand Boisson, PhD l, m, n, Cristina Bottino, MD o, p, Immacolata Brigida, PhD c, Roberta Caorsi, MD a, Jean-Laurent Casanova, MD, PhD l, m, n, q, r, Sabrina Chiesa, PhD a, Ivan Kingyue Chinn, MD s, Gregor Dückers, MD t, Anselm Enders, MD u, Hans Christian Erichsen, MD v, Lisa R. Forbes, MD s, Tomasz Gambin, PhD j, w, Marco Gattorno, MD a, Ehsan Ghayoor Karimiani, MD, Mres, PhD x, y, Silvia Giliani, PhD z, Michael S. Gold, MD, FRACP, MbChB, FCP, DCH aa, Eva-Maria Jacobsen, PhD k, Machiel H. Jansen, BSc d, e, Jovanka R. King, PhD, FRACP, FRCPA, BMBS, B Pod, DCH, PhD aa, Ronald M. Laxer, MDCM, FRCPC cc, James R. Lupski, MD, PhD j, dd, ee, Emily Mace, PhD s, Stefania Marcenaro, PhD ff, Reza Maroofian, PhD gg, Alexander B. Meijer, PhD hh, Tim Niehues, MD t, Luigi D. Notarangelo, MD ii, Jordan Orange, MD, PhD, FAAAI s, Ulrich Pannicke, PhD jj, Chris Pearson, MD kk, Paolo Picco, MD ll, Patrick J. Quinn, MBBS, FRACP aa, Ansgar Schulz, MD k, Filiz Seeborg, MD s, Asbjørg Stray-Pedersen, MD, PhD mm, Hasan Tawamie, PhD nn, Ester M.M. van Leeuwen, MSc e, Alessandro Aiuti, MD, PhD c, ‡, Rae Yeung, MD, PhD, FRCPC cc, oo, pp, ‡, Klaus Schwarz, MD jj, qq, ‡, Taco W. Kuijpers, MD, PhD d, f, ‡ a Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy
b DINOGMI, Università degli Studi di Genova, Genova, Italy
c Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy
d Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
e Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
f Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands
g Department of Immunopathology, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands
h Department of Allergy and Immunology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
i Queen Rania Children's Hospital, Immunology, Allergy and Rheumatology Section, Bone Marrow Transplantation for Primary Immunodeficiency Disorders, Amman, Jordan
j Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
k Department of Pediatrics, University Medical Center Ulm, Ulm, Germany
l St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY
m Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris, France
n Imagine Institute, Paris Descartes University, Paris, France
o Department of Experimental Medicine (DIMES), University of Genoa, Genova, Italy
p Istituto Giannina Gaslini, Genova, Italy
q Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, APHP, Paris, France
r Howard Hughes Medical Institute, New York, NY
s Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas
t Center for Child and Adolescent Medicine, Helios-Clinic, Krefeld, Germany
u Department of Immunology and Infectious Disease, John Curtin School of Medical Research and Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia
v Section of Paediatric Medicine and Transplantation, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
w Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland
x Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London, United Kingdom
y Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran
z Medical Genetics Unit and “A. Nocivelli” Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
aa Discipline of Pediatrics, School of Medicine, University of Adelaide and Department of Allergy and Clinical Immunology, Women's and Children's Health Network, Adelaide, South Australia, Australia
bb Department of Biotechnology and Genetics Engineering in Philadelphia University, Amman, Jordan
cc Division of Rheumatology, Department of Paediatrics and Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
dd Department of Pediatrics, Baylor College of Medicine, Houston, Texas
ee Texas Children's Hospital, Houston, Texas
ff Istituto Giannina Gaslini, Genova, Italy
gg Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter and Genetics and Molecular Cell Sciences Research Centre, St George's University of London, London, United Kingdom
hh Department of Plasma Proteins, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands
ii Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Md
jj Institute for Transfusion Medicine, University Ulm, Ulm, Germany
kk Department of General Medicine, Women's and Children's Health Network, Adelaide, South Australia, Australia
ll Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy
mm Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
nn Institute of Human Genetics of Leipzig, Leipzig, Germany
oo Department of Paediatrics, Institute of Medical Science, University of Toronto, Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada
pp Department of Immunology, Institute of Medical Science, University of Toronto, Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada
qq the Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg – Hessen, Ulm, Germany
| The study was partly supported by grants of the Italian Ministero della Salute (Programma di rete, NET-2011-02350069), the European Commission (ERARE-3-JTC 2015 EUROCID) and Fondazione Telethon (TIGET Core grant C6). L.D.N. is supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md, and also supported in part by a US National Institutes of Health, National Human Genome Research Institute/National Heart, Lung and Blood Institute grant to the Baylor Hopkins Center for Mendelian Genomics (UM1 HG006542) and by NIHNHGRI/NHLBI grant UM1HG006542 to the Baylor-Hopkins Center for Mendelian Genomics. J.S.O. is supported by NIH grant R01AI120989. The study was partly supported by a grant of the Bundesministerium für Bildung und Forschung to the University of Ulm (PID NET3; 01GM1517B). This study was supported by a starting grant from the University Hospital Ulm to A.B., as well as by a grant for the Center of Immunodeficiencies Amsterdam (CIDA). |
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| Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interests. |
© 2019
American Academy of Allergy, Asthma & Immunology. Tous droits réservés.
Vol 143 - N° 6
P. 2296-2299 - juin 2019 Retour au numéro
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