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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida, Immacolata; Zoccolillo, Matteo; Cicalese, Maria Pia; Pfajfer, Laurène; Barzaghi, Federica; Scala, Serena; Oleaga-Quintas, Carmen; Álvarez-Álvarez, Jesus A; Sereni, Lucia; Giannelli, Stefania; Sartirana, Claudia; Dionisio, Francesca; Pavesi, Luca; Benavides-Nieto, Marta; Basso-Ricci, Luca; Capasso, Paola; Mazzi, Benedetta; Rosain, Jeremie; Marcus, Nufar; Lee, Yu Nee; Somech, Raz; Degano, Massimo; Raiola, Giuseppe; Caorsi, Roberta; Picco, Paolo; Moncada Velez, Marcela; Khourieh, Joelle; Arias, Andrés Augusto; Bousfiha, Aziz; Issekutz, Thomas; Issekutz, Andrew; Boisson, Bertrand; Dobbs, Kerry; Villa, Anna; Lombardo, Angelo; Neven, Benedicte; Moshous, Despina; Casanova, Jean-Laurent; Franco, José Luis; Notarangelo, Luigi D; Scielzo, Cristina; Volpi, Stefano; Dupré, Loïc; Bustamante, Jacinta; Gattorno, Marco; Aiuti, Alessandro.
Afiliação
  • Brigida I; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Zoccolillo M; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Cicalese MP; Department of Systems Medicine, Tor Vergata University, Rome, Italy.
  • Pfajfer L; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Barzaghi F; Pediatric Immunohematology, IRCCS, San Raffaele Scientific Institute, Milan, Italy.
  • Scala S; Vita-Salute San Raffaele University, Milan, Italy.
  • Oleaga-Quintas C; INSERM, Unité Mixte de Recherche (UMR) 1043, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.
  • Álvarez-Álvarez JA; Centre national de la recherche scientifique, UMR5282, Toulouse, France.
  • Sereni L; Université Toulouse III Paul-Sabatier, Toulouse, France.
  • Giannelli S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Sartirana C; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Dionisio F; Pediatric Immunohematology, IRCCS, San Raffaele Scientific Institute, Milan, Italy.
  • Pavesi L; Department of Systems Medicine, Tor Vergata University, Rome, Italy.
  • Benavides-Nieto M; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Basso-Ricci L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Capasso P; Paris Descartes University, Imagine Institute, Paris, France.
  • Mazzi B; Group of Primary Immunodeficiencies, Department of Microbiology & Parasitology, School of Medicine, University of Antioquia (UdeA), Medellín, Colombia.
  • Rosain J; IPS Universitaria, Health Services of University of Antioquia, Medellín, Colombia.
  • Marcus N; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Lee YN; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Somech R; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Degano M; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Raiola G; Division of Experimental Oncology, Unit of B-Cell Neoplasia, San Raffaele Scientific Institute, Milan, Italy.
  • Caorsi R; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Picco P; Genome Dynamics in the Immune System, Université Paris Descartes-Sorbonne Paris, Paris, France.
  • Moncada Velez M; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Khourieh J; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
  • Arias AA; Immunogenetics Laboratory, HLA & Chimerism, Department of Immunohematology & Blood Transfusion, IRCCS Ospedale San Raffaele, Milano, Italy.
  • Bousfiha A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Issekutz T; Paris Descartes University, Imagine Institute, Paris, France.
  • Issekutz A; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
  • Boisson B; Kipper Institute for Allergy and Immunology, Schneider Children's Medical Center of Israel, Petach Tikva, affiliated with Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Dobbs K; Pediatric Department A and the Immunology Services, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated with Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Villa A; Pediatric Department A and the Immunology Services, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated with Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lombardo A; Division of Immunology, Transplantation, and Infectious Diseases, Biocrystallography Unit, San Raffaele Scientific Institute, Milan, Italy.
  • Neven B; Unità Operativa Complessa di Pediatria, Azienda Ospedaliera "Pugliese-Ciaccio" di Catanzaro.
  • Moshous D; Unità Operativa Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Casanova JL; Unità Operativa Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Franco JL; Group of Primary Immunodeficiencies, Department of Microbiology & Parasitology, School of Medicine, University of Antioquia (UdeA), Medellín, Colombia.
  • Notarangelo LD; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Scielzo C; Paris Descartes University, Imagine Institute, Paris, France.
  • Volpi S; Group of Primary Immunodeficiencies, Department of Microbiology & Parasitology, School of Medicine, University of Antioquia (UdeA), Medellín, Colombia.
  • Dupré L; School of Microbiology, University of Antioquia (UdeA), Medellín, Colombia.
  • Bustamante J; Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco.
  • Gattorno M; Department of Pediatrics & Department of Microbiology-Immunology, Dalhousie University, Halifax, NS, Canada.
  • Aiuti A; Department of Pediatrics & Department of Microbiology-Immunology, Dalhousie University, Halifax, NS, Canada.
Blood ; 132(22): 2362-2374, 2018 11 29.
Article em En | MEDLINE | ID: mdl-30254128
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos T / Mutação em Linhagem Germinativa / Complexo 2-3 de Proteínas Relacionadas à Actina / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos T / Mutação em Linhagem Germinativa / Complexo 2-3 de Proteínas Relacionadas à Actina / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália