Abstract

The Patient Core will perform screening diagnosis and laboratory studies on patients in order to identify individuals who will serve as material for the studies in Project 1 (Dr. Terhorst), Project 2 (Dr. Geha) and Project 3 (Dr. Alt). B cell lines, T cell lines and fibroblasts will be prepared from patients suspected of having X-linked lympho proliferation disorders (XLP), patients with T+B- severe combined immunodeficiency (SCID), and of T-B- autosomal recessive SCID. The core will also screen for mutations in the XLP, SLP76- and RAG genes in appropriate patients by protein and sequence analysis. The significance of identified mutations will be studied in functional assays. The FACS section of the core will support the analysis of lymphocytes from knockout and transgenic mice generated in all 3 projects of C. Terhorst, R. Geha, and F. Alt.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Type
Research Program Projects (P01)
Project #
5P01AI035714-07
Application #
6332449
Study Section
Project Start
2000-08-01
Project End
2001-07-31
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
7
Fiscal Year
2000
Total Cost
$276,285
Indirect Cost

  Institution

Name
Beth Israel Deaconess Medical Center
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02215

  Publications

Sayos, J; Wu, C; Morra, M et al. (2017) Pillars Article: The X-Linked Lymphoproliferative Disease Gene Product SAP Regulates Signals Induced through the Co-Receptor SLAM. Nature. 1998. 395: 462-469. J Immunol 199:1534-1541
Chaudhary, Anu; Leite, Mara; Kulasekara, Bridget R et al. (2016) Human Diversity in a Cell Surface Receptor that Inhibits Autophagy. Curr Biol 26:1791-801
Jabri, Bana; Terhorst, Cox (2014) Editorial overview: Autoimmunity. Curr Opin Immunol 31:v-vii
Sintes, Jordi; Cuenca, Marta; Romero, Xavier et al. (2013) Cutting edge: Ly9 (CD229), a SLAM family receptor, negatively regulates the development of thymic innate memory-like CD8+ T and invariant NKT cells. J Immunol 190:21-6
Detre, Cynthia; Keszei, Marton; Garrido-Mesa, Natividad et al. (2012) SAP expression in invariant NKT cells is required for cognate help to support B-cell responses. Blood 120:122-9
McDonald, Douglas R; Massaad, Michel J; Johnston, Alicia et al. (2010) Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 126:1304-5.e3
McDonald, Douglas R; Goldman, Frederick; Gomez-Duarte, Oscar D et al. (2010) Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients. J Allergy Clin Immunol 126:332-7, 337.e1-2
Detre, Cynthia; Keszei, Marton; Romero, Xavier et al. (2010) SLAM family receptors and the SLAM-associated protein (SAP) modulate T cell functions. Semin Immunopathol 32:157-71
Sintes, Jordi; Romero, Xavier; de Salort, Jose et al. (2010) Mouse CD84 is a pan-leukocyte cell-surface molecule that modulates LPS-induced cytokine secretion by macrophages. J Leukoc Biol 88:687-97
Diamond, Betty; Cunningham-Rundles, Charlotte; Fischer, Alain et al. (2010) Josiah F. Wedgwood (1950-2009). J Allergy Clin Immunol 125:506

Showing the most recent 10 out of 107 publications