Now showing items 1-13 of 13

    • Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System 

      Lafaille, Fabien G.; Ciancanelli, Michael J.; Studer, Lorenz; Smith, Gregory; Notarangelo, Luigi; Casanova, Jean-Laurent; Zhang, Shen-Ying (Frontiers Media S.A., 2015)
      Herpes simplex virus 1 (HSV-1) is a common virus that can rarely invade the human central nervous system (CNS), causing devastating encephalitis. The permissiveness to HSV-1 of the various relevant cell types of the CNS, ...
    • DOCK8 Functions as an Adaptor that Links TLR–MyD88 Signaling to B Cell Activation 

      Rauter, Ingrid; Recher, Mike; Wakim, Rima; Dbaibo, Ghassan; Dasouki, Majed; Barlan, Isil; Baris, Safa; Kutukculer, Necil; Ochs, Hans; Plebani, Alessandro; Kanariou, Maria; Lefranc, Gerard; Reisli, Ismail; Fitzgerald, Katerine; Golenbock, Douglas; Keles, Sevgi; Ceja, Reuben; Jabara, Haifa Halim; McDonald, Douglas Ray; Janssen, Erin Margaret; Massaad, Michel; Ramesh, Narayanaswamy; Borzutzky, Arturo; Benson, Halli Louise; Schneider, Lynda C.; Baxi, Sachin; Notarangelo, Luigi D.; Al-Herz, Waleed; Manis, John P.; Chatila, Talal Amine; Geha, Raif Salim (Nature Publishing Group, 2012)
      DOCK8 and MyD88 have been implicated in serologic memory. Here we report antibody responses were impaired and \(CD27^+\) memory B cells were severely reduced in DOCK8-deficient patients. Toll-like receptor 9 (TLR9)- but ...
    • Exacerbated experimental arthritis in Wiskott–Aldrich syndrome protein deficiency: Modulatory role of regulatory B cells 

      Bouma, Gerben; Carter, Natalie A; Recher, Mike; Malinova, Dessislava; Adriani, Marsilio; Notarangelo, Luigi D; Burns, Siobhan O; Mauri, Claudia; Thrasher, Adrian J (BlackWell Publishing Ltd, 2014)
      Patients deficient in the cytoskeletal regulator Wiskott–Aldrich syndrome protein (WASp) are predisposed to varied autoimmunity, suggesting it has an important controlling role in participating cells. IL-10-producing ...
    • Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies 

      Casanova, Jean-Laurent; Conley, Mary Ellen; Seligman, Stephen J.; Abel, Laurent; Notarangelo, Luigi D. (The Rockefeller University Press, 2014)
      Can genetic and clinical findings made in a single patient be considered sufficient to establish a causal relationship between genotype and phenotype? We report that up to 49 of the 232 monogenic etiologies (21%) of human ...
    • Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia 

      Boisson, Bertrand; Laplantine, Emmanuel; Dobbs, Kerry; Cobat, Aurélie; Tarantino, Nadine; Hazen, Melissa; Lidov, Hart G.W.; Hopkins, Gregory; Du, Likun; Belkadi, Aziz; Chrabieh, Maya; Itan, Yuval; Picard, Capucine; Fournet, Jean-Christophe; Eibel, Hermann; Tsitsikov, Erdyni; Pai, Sung-Yun; Abel, Laurent; Al-Herz, Waleed; Casanova, Jean-Laurent; Israel, Alain; Notarangelo, Luigi D. (The Rockefeller University Press, 2015)
      Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and ...
    • Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination 

      Wesemann, Duane Robert; Magee, Jennifer; Boboila, Cristian; Calado, Dinis Pedro; Gallagher, Michael P.; Portuguese, Andrew J.; Manis, John P.; Zhou, Xiaolong; Recher, Mike; Rajewsky, Klaus; Notarangelo, Luigi D.; Alt, Frederick W. (The Rockefeller University Press, 2011)
      Immunoglobulin heavy chain (IgH) class-switch recombination (CSR) replaces initially expressed Cμ (IgM) constant regions (C(H)) exons with downstream C(H) exons. Stimulation of B cells with anti-CD40 plus interleukin-4 ...
    • Immunodeficiency with Autoimmunity: Beyond the Paradox 

      Bacchetta, R.; Notarangelo, Luigi D. (Frontiers Media S.A., 2013)
    • Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 

      Boisson, Bertrand; Laplantine, Emmanuel; Prando, Carolina; Giliani, Silvia; Israelsson, Elisabeth; Xu, Zhaohui; Abhyankar, Avinash; Israël, Laura; Trevejo-Nunez, Giraldina; Bogunovic, Dusan; Cepika, Alma-Martina; MacDuff, Donna; Chrabieh, Maya; Hubeau, Marjorie; Bajolle, Fanny; Debré, Marianne; Mazzolari, Evelina; Vairo, Donatella; Agou, Fabrice; Virgin, Herbert W.; Bossuyt, Xavier; Rambaud, Caroline; Facchetti, Fabio; Bonnet, Damien; Quartier, Pierre; Fournet, Jean-Christophe; Pascual, Virginia; Chaussabel, Damien; Notarangelo, Luigi D.; Puel, Anne; Israël, Alain; Casanova, Jean-Laurent; Picard, Capucine (2012)
      We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic auto-inflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two ...
    • Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells 

      Lafaille, Fabien G; Pessach, Itai M.; Zhang, Shen-Ying; Ciancanelli, Michael J.; Herman, Melina; Abhyankar, Avinash; Ying, Shui-Wang; Keros, Sotirios; Goldstein, Peter A.; Mostoslavsky, Gustavo; Ordovas-Montanes, Jose Manuel; Jouanguy, Emmanuelle; Plancoulaine, Sabine; Tu, Edmund; Elkabetz, Yechiel; Al-Muhsen, Saleh; Tardieu, Marc; Schlaeger, Thorsten M.; Daley, George Quentin; Abel, Laurent; Casanova, Jean-Laurent; Studer, Lorenz; Notarangelo, Luigi D. (2012)
      In the course of primary infection with herpes simplex virus 1 (HSV-1), children with inborn errors of TLR3 immunity are prone to HSV-1 encephalitis (HSE) 1–3. We tested the hypothesis that the pathogenesis of HSE involves ...
    • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency 

      Jabara, Haifa H.; Boyden, Steven E.; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J.; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H.; Al-Ramadi, Basel K.; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E. Graham; Sola-Visner, Martha; Ohsumi, Toshiro K.; Andrews, Nancy C.; Notarangelo, Luigi D.; Fleming, Mark D.; Al-Herz, Waleed; Kunkel, Louis M.; Geha, Raif S. (2015)
      Patients with a combined immunodeficiency characterized by normal numbers, but impaired function, of T and B cells had a homozygous p.Tyr20His mutation in transferrin receptor 1 (TfR1), encoded by TFRC. The mutation disrupts ...
    • A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP 

      Lanzi, Gaetana; Moratto, Daniele; Vairo, Donatella; Masneri, Stefania; Delmonte, Ottavia Maria; Paganini, Tiziana; Parolini, Silvia; Tabellini, Giovanna; Mazza, Cinzia; Savoldi, Gianfranco; Montin, Davide; Martino, Silvana; Tovo, Pierangelo; Pessach, Itai M.; Massaad, Michel; Ramesh, Narayanaswamy; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Luigi D.; Geha, Raif Salim; Giliani, Silvia (The Rockefeller University Press, 2012)
      A homozygous mutation that gave rise to a stop codon in the WIPF1 gene resulted in WASP protein destabilization and in symptoms resembling those of Wiskott-Aldrich syndrome
    • Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes 

      de Bruin, Lisa Ott; Yang, Wei; Capuder, Kelly; Lee, Yu Nee; Antolini, Maddalena; Meyers, Robin; Gellert, Martin; Musunuru, Kiran; Manis, John; Notarangelo, Luigi (Impact Journals LLC, 2016)
      Mutations in the Recombination Activating Gene 1 (RAG1) can cause a wide variety of clinical and immunological phenotypes in humans, ranging from absence of T and B lymphocytes to occurrence of autoimmune manifestations ...
    • Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress 

      Rissone, Alberto; Weinacht, Katja Gabriele; la Marca, Giancarlo; Bishop, Kevin; Giocaliere, Elisa; Jagadeesh, Jayashree; Felgentreff, Kerstin; Dobbs, Kerry; Al-Herz, Waleed; Jones, Marypat; Chandrasekharappa, Settara; Kirby, Martha; Wincovitch, Stephen; Simon, Karen Lyn; Itan, Yuval; DeVine, Alex; Schlaeger, Thorsten; Schambach, Axel; Sood, Raman; Notarangelo, Luigi D.; Candotti, Fabio (The Rockefeller University Press, 2015)
      Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of all tissues. The AK2 isoenzyme is expressed in the mitochondrial ...