101. Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation-induced apoptosis.
- Author
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Pignata C, Fiore M, Scotese I, Cosentini E, Sperandeo MP, Turco C, Petrella A, Notarangelo L, and Venuta S
- Subjects
- Cell Cycle, Child, Preschool, DNA Fragmentation, Humans, Immunophenotyping, Male, Apoptosis, Lymphocyte Activation, Severe Combined Immunodeficiency immunology
- Abstract
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.
- Published
- 1997
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