Agency
National Institute of Health (NIH)
Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Type
Research Program Projects (P01)
Project #
1P01AI076210-01A1
Application #
7614102
Study Section
Special Emphasis Panel (ZAI1-PA-I (S1))
Project Start
2009-07-05
Project End
2014-06-30
Budget Start
2009-07-05
Budget End
2010-06-30
Support Year
1
Fiscal Year
2009
Total Cost
$90,497
Indirect Cost
Name
Beth Israel Deaconess Medical Center
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code
02215
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
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
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
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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