| Abstract | Profound cellular immunodeficiency occurs as the result of mutations in proteins involved in both the differentiation and function of mature lymphoid cells. We describe here a novel human immune aberration arising from a truncation mutation of the interleukin-2 receptor alpha chain (CD25), a subunit of the tripartite high-affinity receptor for interleukin 2. This immunodeficiency is characterized by decreased numbers of peripheral T cells displaying abnormal proliferation but normal B cell development. Extensive lymphocytic infiltration of tissues, including lung, liver, gut, and bone, is observed, accompanied by tissue atrophy and inflammation. Although mature T cells are present, the absence of CD25 does affect the differentiation of thymocytes. While displaying normal development of CD2, CD3, CD4, and CD8 expression, CD25-deficient cortical thymocytes do not express CD1, and furthermore they fail to normally down-regulate levels of the anti-apoptotic protein bcl-2. |
| Authors | N Sharfe, H K Dadi, M Shahar, C M Roifman
(Affiliation: Department of Pediatrics, University of Toronto, ON, Canada.)
|
| Journal | Proceedings of the National Academy of Sciences of the United States of America
(Proc Natl Acad Sci U S A)
Vol. 94
Issue 7
Pg. 3168-71
(Apr 1 1997)
ISSN: 0027-8424 UNITED STATES |
| PMID | 9096364
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- Proto-Oncogene Proteins c-bcl-2
- Receptors, Interleukin-2
|
| Topics |
- Amino Acid Sequence
- Apoptosis
- Humans
- Immune System Diseases
(genetics, immunology, pathology)
- Immunophenotyping
- Infant
- Male
- Molecular Sequence Data
- Proto-Oncogene Proteins c-bcl-2
(metabolism)
- Receptors, Interleukin-2
(genetics)
- T-Lymphocytes
(immunology, metabolism)
- Thymus Gland
(immunology, metabolism, pathology)
|
