Now showing items 1-4 of 4

    • Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα 

      Mooster, Jana L.; Le Bras, Severine; Massaad, Michel J.; Jabara, Haifa; Yoon, Juhan; Galand, Claire; Heesters, Balthasar A.; Burton, Oliver T.; Mattoo, Hamid; Manis, John; Geha, Raif S. (The Rockefeller University Press, 2015)
      Patients with ectodermal dysplasia with immunodeficiency (ED-ID) caused by mutations in the inhibitor of NF-κB α (IκBα) are susceptible to severe recurrent infections, despite normal T and B cell numbers and intact in vitro ...
    • 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 ...
    • 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