Abstract
The primary immunodeficiency diseases (PIDs) encompass an extremely large and diverse number of clinical disorders caused by mutations in genes that affect virtually every measurable component of our immune systems. Many of the genetic mutations lead to abnormalities that can be detected in circulating peripheral blood cells of suspected patients by flow cytometry and the appropriate combinations of reagents and in vitro manipulations. The flow cytometry procedures that have been developed to detect abnormalities in peripheral blood cells of primary immunodeficiency patients can barely be covered in an entire book, let alone one chapter. Instead of attempting to cover each disease with a specific assay or test, we review three procedures each covering a global aspect of the observed immune abnormality, i.e., detection of lymphocyte subset abnormalities, lymphocyte “marker” abnormalities, and leukocyte function abnormalities.
An erratum to this chapter can be found at http://dx.doi.org/10.1007/978-1-61737-950-5_24
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Fudenberg, H. H., Good, R. A., Hitzig, W., Kunkel, H. G., Roitt, I. M., Rosen F. S., Rowe, D. S., Seligmann, M., and Soothill, J. R. (1970) Classification of the primary immune deficiency deficiencies: WHO recommendation, N. Engl. J. Med. 283, 656.
Fudenberg H., Good, R. A., Goodman, H. C., Hitzig, W., Kunkel, H. G., Roitt, I. M., Rosen, F. S., Rowe, D. S., Seligmann M., and Soothill, R. J. (1971) Primary immunodeficiencies: report of a World Health Organization Committee. Pediatrics 47, 927–946.
Geha, R. S., Notarangelo, L. D., Casanova, J. L., Chapel, H., Conley, M. E., Fischer, A., Hammarström, L., Nonoyama, S., Ochs, H. D., Puck, J. M., Roifman, C., Seger, R., and Wedgwood, J. (2007) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies primary immunodeficiency diseases classification committee. J. Allergy Clin. Immunol. 120, 776–794.
Samarghitean, D., Ortutay, C., and Vihinen, M. (2009) Systematic classification of primary immunodeficiencies based on clinical, pathological and laboratory paramters. J. Immunol. 183, 7569–7575.
O’Gorman, M. R. G. (2008) Role of Flow Cytometry in the Diagnosis and Monitoring of Primary Immunodeficiency Disease, in Handbook of Human Immunology, Second Edition (O’Gorman, M. R. G. and Donnenberg, A. D., eds.), CRC Press, Boca Raton, FL, pp. 267–311.
Good, R. A. and Lolomon, J. Z. (1956) Disturbances in gamma globulin synthesis as “experiments of nature”. Pediatrics 18, 109–146.
Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D., Pabst, H. F., Aruffo, A., and Ochs, H. D. (1998) Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 92, 2421–2434.
Notorangelo, L. D., Fischer, A., Geha, R. S., et al. (2009) International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies: primary immunodeficiencies: 2009 update. J. Allergy Clin. Immunol. 124, 1161–1178.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media, LLC
About this protocol
Cite this protocol
O’Gorman, M.R.G., Zollett, J., Bensen, N. (2011). Flow Cytometry Assays in Primary Immunodeficiency Diseases. In: Hawley, T., Hawley, R. (eds) Flow Cytometry Protocols. Methods in Molecular Biology, vol 699. Humana Press. https://doi.org/10.1007/978-1-61737-950-5_15
Download citation
DOI: https://doi.org/10.1007/978-1-61737-950-5_15
Published:
Publisher Name: Humana Press
Print ISBN: 978-1-61737-949-9
Online ISBN: 978-1-61737-950-5
eBook Packages: Springer Protocols