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Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation-induced apoptosis
- Source :
- Scopus-Elsevier, Università degli studi di Salerno-IRIS
-
Abstract
- SUMMARY Programmed death of T cells has been proposed as one of the mechanisms by which HIV induces a decline in the number and functions of T cells in advanced AIDS. In this study we report on a patient affected by a congenital form of combined immunodeficiency presenting as a profound T cell activation deficiency. Subsequently, a gradual loss of T cells occurred, eventually resulting in a classical form of severe combined immunodeficiency (SCID). In this patient a sizeable fraction of apoptotic cells was documented in the first phase of the disease by either propidium iodide staining or DNA fragmentation analysis. The presence of anergic T cells of maternal origin and engrafted in the child was excluded by analysis of DNA polymorphic regions. At 4 years of age the patient died of disseminated interstitial pneumopathy, while still awaiting an HLA-matched bone marrow transplantation. On the occasion of a new pregnancy in the mother, the prenatal immunological evaluation of the female fetus revealed a T− B+ SCID phenotype. This is the first observation of a primary immunodeficiency associated with inappropriate apoptosis.
- Subjects :
- Male
Programmed cell death
T cell
Immunology
Apoptosis
DNA Fragmentation
Biology
Lymphocyte Activation
Immunophenotyping
chemistry.chemical_compound
medicine
Immunology and Allergy
Humans
Propidium iodide
Immunodeficiency
Severe combined immunodeficiency
Cell Cycle
T lymphocyte
Original Articles
medicine.disease
medicine.anatomical_structure
chemistry
Child, Preschool
Primary immunodeficiency
Severe Combined Immunodeficiency
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier, Università degli studi di Salerno-IRIS
- Accession number :
- edsair.doi.dedup.....0e7bc967f0c334ba4f9d33111733450d