Now showing items 1-8 of 8

    • 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 ...
    • Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function 

      Kumar, Lalit; Chou, Janet; Yee, Christina S.K.; Borzutzky, Arturo; Vollmann, Elisabeth H.; von Andrian, Ulrich H.; Park, Shin-Young; Hollander, Georg; Manis, John P.; Poliani, P. Luigi; Geha, Raif S. (The Rockefeller University Press, 2014)
      Lrrc8a is a ubiquitously expressed gene that encodes a leucine-rich repeat (LRR)–containing protein detected at higher levels on the surface of thymocytes than on other immune cells. We generated Lrrc8a−/− mice to investigate ...
    • Leukotriene B4-Driven Neutrophil Recruitment to the Skin Is Essential for Allergic Skin Inflammation 

      Oyoshi, Michiko K.; He, Rui; Li, Yitang; Mondal, Subhanjan; Yoon, Juhan; Afshar, Roshi; Chen, Mei; Lee, David M.; Luo, Hongbo; Luster, Andrew David; Cho, John S.; Miller, Lloyd S.; Larson, Allison; Murphy, George Francis; Geha, Raif Salim (Elsevier BV, 2012)
      Scratching triggers skin flares in atopic dermatitis. We demonstrate that scratching of human skin and tape stripping of mouse skin cause neutrophil influx. In mice, this influx was largely dependent on the generation of ...
    • Mechanisms of Immunodeficiency Due To NFkappaB Signaling Defects 

      Mooster, Jana (2012-11-07)
      Ectodermal dysplasia with immunodeficiency (ED-ID) is a rare primary immunodeficiency syndrome characterized by defects in ectodermal tissues (skin, hair and sweat glands), recurrent infections, impaired response to Toll-like ...
    • 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
    • Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells 

      Keppler, Selina Jessica; Gasparrini, Francesca; Burbage, Marianne; Aggarwal, Shweta; Frederico, Bruno; Geha, Raif S.; Way, Michael; Bruckbauer, Andreas; Batista, Facundo D. (Cell Press, 2015)
      Summary Humans with Wiskott-Aldrich syndrome display a progressive immunological disorder associated with compromised Wiskott-Aldrich Syndrome Interacting Protein (WIP) function. Mice deficient in WIP recapitulate such an ...