Abstract

This project represents an extension of a long-standing series of collaborative studies performed to better characterize and understand immune deficiency. Mutations involving the genes for the common gamma chain (X-SCID) and fas (ALPS) are being evaluated using dideoxyfinger printing (ddF) and direct gene sequencing. These studies have continued to identify a number of new mutations in both diseases and these data have been published and submitted for publication. In addition, this project has provided valuable experience in the critical approaches to molecular diagnosis of genetic disorders. This procedure manuals and technical approaches used, are being used to assist with the NIH CLIA resource program in areas of molecular diagnostics.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Clinical Center (CLC)
Type
Intramural Research (Z01)
Project #
1Z01CL010304-03
Application #
6542091
Study Section
Cognition and Perception Study Section (CP)
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
Clinical Center
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Notarangelo, Luigi; Day, Noorbibi; Fleisher, Thomas (2009) 2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th. Immunol Res 44:1-3
Fleisher, Thomas A (2008) The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis. Immunol Res 40:87-92
Uzel, Gulbu; Tng, Emilia; Rosenzweig, Sergio D et al. (2008) Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood 111:209-18
Cunningham Rundles, Charlotte; Fleisher, Thomas; Markert, Mary Louise et al. (2006) New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006. Clin Immunol 121:369-71
Niemela, Julie E; Hsu, Amy P; Fleisher, Thomas A et al. (2006) Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes 20:21-6
Orange, Jordan S; Levy, Ofer; Brodeur, Scott R et al. (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 114:650-6
Jirapongsananuruk, Orathai; Malech, Harry L; Kuhns, Douglas B et al. (2003) Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 111:374-9
Jirapongsananuruk, Orathai; Niemela, Julie E; Malech, Harry L et al. (2002) CYBB mutation analysis in X-linked chronic granulomatous disease. Clin Immunol 104:73-6
Niemela, J E; Puck, J M; Fischer, R E et al. (2000) Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 95:33-8