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Differential biological role of CD3 chains revealed by human immunodeficiencies.
- Source :
-
Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2007 Feb 15; Vol. 178 (4), pp. 2556-64. - Publication Year :
- 2007
-
Abstract
- The biological role in vivo of the homologous CD3gamma and delta invariant chains within the human TCR/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, in a Turkish family, two new patients with complete CD3gamma deficiency and SCID symptoms and compared them with three CD3gamma-deficient individuals belonging to two families from Turkey and Spain. All tested patients shared similar immunological features such as a partial TCR/CD3 expression defect, mild alphabeta and gammadelta T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA(+) alphabeta T cells. However, intrafamilial and interfamilial clinical variability was observed in patients carrying the same CD3G mutations. Two reached the second or third decade in healthy conditions, whereas the other three showed lethal SCID features with enteropathy early in life. In contrast, all reported human complete CD3delta (or CD3epsilon) deficiencies are in infants with life-threatening SCID and very severe alphabeta and gammadelta T lymphocytopenia. Thus, the peripheral T lymphocyte pool was comparatively well preserved in human CD3gamma deficiencies despite poor thymus output or clinical outcome. We propose a CD3delta >> CD3gamma hierarchy for the relative impact of their absence on the signaling for T cell production in humans.
- Subjects :
- Adult
Animals
CD3 Complex genetics
Child
Female
Humans
Infant
Leukocyte Common Antigens genetics
Leukocyte Common Antigens immunology
Lymphopenia genetics
Male
Mice
Mutation
Pedigree
Receptors, Antigen, T-Cell, alpha-beta genetics
Receptors, Antigen, T-Cell, alpha-beta immunology
Receptors, Antigen, T-Cell, gamma-delta genetics
Receptors, Antigen, T-Cell, gamma-delta immunology
Severe Combined Immunodeficiency genetics
Spain
T-Lymphocytes immunology
Thymus Gland immunology
Turkey
CD3 Complex immunology
Lymphopenia immunology
Severe Combined Immunodeficiency immunology
Subjects
Details
- Language :
- English
- ISSN :
- 0022-1767
- Volume :
- 178
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of immunology (Baltimore, Md. : 1950)
- Publication Type :
- Academic Journal
- Accession number :
- 17277165
- Full Text :
- https://doi.org/10.4049/jimmunol.178.4.2556