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J Allergy Clin Immunol. 2019 Feb 13. pii: S0091-6749(19)30206-4. doi: 10.1016/j.jaci.2019.02.003. [Epub ahead of print]

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Author information

1
Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy; DINOGMI, Università degli Studi di Genova, Genova, Italy. Electronic address: stefanovolpi@gaslini.org.
2
Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.
3
Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
4
Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
5
Department of Immunopathology, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
6
Department of Biotechnology and Genetics Engineering in Philadelphia University, Amman, Jordan.
7
Department of Allergy and Immunology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
8
Queen Rania Children's Hospital, Immunology, Allergy and Rheumatology Section, Bone Marrow Transplantation for Primary Immunodeficiency Disorders, Amman, Jordan.
9
Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
10
Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
11
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris, France; Imagine Institute, Paris Descartes University, Paris, France.
12
Department of Experimental Medicine (DIMES), University of Genoa, Genova, Italy; Istituto Giannina Gaslini, Genova, Italy.
13
Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy.
14
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris, France; Imagine Institute, Paris Descartes University, Paris, France; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, APHP, Paris, France; Howard Hughes Medical Institute, New York, NY.
15
Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
16
Center for Child and Adolescent Medicine, Helios-Clinic, Krefeld, Germany.
17
Department of Immunology and Infectious Disease, John Curtin School of Medical Research and Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia.
18
Section of Paediatric Medicine and Transplantation, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
19
Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
20
Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
21
Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
22
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.
23
Division of Rheumatology, Department of Paediatrics and Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
24
Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.
25
Istituto Giannina Gaslini, Genova, Italy.
26
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.
27
Department of Plasma Proteins, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
28
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Md.
29
Institute for Transfusion Medicine, University Ulm, Ulm, Germany.
30
Department of General Medicine, Women's and Children's Health Network, Adelaide, South Australia, Australia.
31
Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy.
32
Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
33
Institute of Human Genetics of Leipzig, Leipzig, Germany.
34
Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
35
Division of Rheumatology, Department of Paediatrics and Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, Institute of Medical Science, University of Toronto, Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Immunology, Institute of Medical Science, University of Toronto, Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
36
Institute for Transfusion Medicine, University Ulm, Ulm, Germany; the Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany.
37
Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: t.w.kuijpers@amc.nl.
PMID:
30771411
DOI:
10.1016/j.jaci.2019.02.003

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