Abstract

The wealth of new discoveries in the field of primary immunodeficiencies published in the last few years, combined with our own findings, has galvanized this team of experienced researchers. The two clinicianscientists (Raif Geha and Luigi Notarangelo) together with the two molecular biologists (Fred Alt and Cox Terhorst), propose to integrate their considerable expertise into a new Program Project Grant application entitled:

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Type
Research Program Projects (P01)
Project #
5P01AI076210-05
Application #
8501247
Study Section
Special Emphasis Panel (ZAI1-PA-I)
Project Start
Project End
Budget Start
2013-07-01
Budget End
2014-06-30
Support Year
5
Fiscal Year
2013
Total Cost
$43,068
Indirect Cost
$4,868

  Institution

Name
Beth Israel Deaconess Medical Center
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code
02215

  Publications

Hoyos-Bachiloglu, Rodrigo; Chou, Janet; Sodroski, Catherine N et al. (2017) A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest 127:4415-4420
Jabara, Haifa H; Lee, John J; Janssen, Erin et al. (2017) Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice. J Allergy Clin Immunol 139:1293-1301.e4
Xing, Mengtan; Bjørås, Magnar; Daniel, Jeremy A et al. (2017) Synthetic lethality between murine DNA repair factors XLF and DNA-PKcs is rescued by inactivation of Ku70. DNA Repair (Amst) 57:133-138
Badran, Yousef R; Massaad, Michel J; Bainter, Wayne et al. (2016) Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clin Immunol 166-167:100-2
Jabara, Haifa H; Boyden, Steven E; Chou, Janet et al. (2016) A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet 48:74-8
Yee, Christina S; Massaad, Michel J; Bainter, Wayne et al. (2016) Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol 137:879-88.e2
Felgentreff, Kerstin; Lee, Yu Nee; Frugoni, Francesco et al. (2015) Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. J Allergy Clin Immunol 136:140-150.e7
Buchbinder, David; Baker, Rebecca; Lee, Yu Nee et al. (2015) Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol 35:119-24
Chou, Janet; Badran, Yousef R; Yee, Christina S K et al. (2015) A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol 136:479-482.e1
Boisson, Bertrand; Laplantine, Emmanuel; Dobbs, Kerry et al. (2015) Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med 212:939-51

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