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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Abu-Halaweh, Marwan; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Brigida, Immacolata; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae.
Afiliação
  • Volpi S; 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.
  • Cicalese MP; Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.
  • Tuijnenburg P; 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, Amsterd
  • Tool ATJ; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Cuadrado E; Department of Immunopathology, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Abu-Halaweh M; Department of Biotechnology and Genetics Engineering in Philadelphia University, Amman, Jordan.
  • Ahanchian H; Department of Allergy and Immunology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Alzyoud R; Queen Rania Children's Hospital, Immunology, Allergy and Rheumatology Section, Bone Marrow Transplantation for Primary Immunodeficiency Disorders, Amman, Jordan.
  • Akdemir ZC; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Barzaghi F; Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.
  • Blank A; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
  • Boisson B; 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.
  • Bottino C; Department of Experimental Medicine (DIMES), University of Genoa, Genova, Italy; Istituto Giannina Gaslini, Genova, Italy.
  • Brigida I; Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.
  • Caorsi R; Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy.
  • Casanova JL; 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
  • Chiesa S; Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy.
  • Chinn IK; Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
  • Dückers G; Center for Child and Adolescent Medicine, Helios-Clinic, Krefeld, Germany.
  • Enders A; Department of Immunology and Infectious Disease, John Curtin School of Medical Research and Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia.
  • Erichsen HC; Section of Paediatric Medicine and Transplantation, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Forbes LR; Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
  • Gambin T; 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.
  • Gattorno M; Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy.
  • Karimiani EG; 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.
  • Giliani S; Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Gold MS; 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.
  • Jacobsen EM; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
  • Jansen MH; 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, Amsterd
  • King JR; 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.
  • Laxer RM; Division of Rheumatology, Department of Paediatrics and Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Lupski JR; 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.
  • Mace E; Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
  • Marcenaro S; Istituto Giannina Gaslini, Genova, Italy.
  • Maroofian R; 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.
  • Meijer AB; Department of Plasma Proteins, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Niehues T; Center for Child and Adolescent Medicine, Helios-Clinic, Krefeld, Germany.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Md.
  • Orange J; Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
  • Pannicke U; Institute for Transfusion Medicine, University Ulm, Ulm, Germany.
  • Pearson C; Department of General Medicine, Women's and Children's Health Network, Adelaide, South Australia, Australia.
  • Picco P; Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy.
  • Quinn PJ; 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.
  • Schulz A; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
  • Seeborg F; Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas.
  • Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Tawamie H; Institute of Human Genetics of Leipzig, Leipzig, Germany.
  • van Leeuwen EMM; Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Aiuti A; Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.
  • Yeung R; 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, Toron
J Allergy Clin Immunol ; 143(6): 2296-2299, 2019 06.
Article em En | MEDLINE | ID: mdl-30771411
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo 2-3 de Proteínas Relacionadas à Actina / Síndromes de Imunodeficiência Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo 2-3 de Proteínas Relacionadas à Actina / Síndromes de Imunodeficiência Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2019 Tipo de documento: Article