title: Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation-induced apoptosis.
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.
authors.affiliation: Department of Paediatrics, Federico II University, Naples, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Pignata
authors.forename: M
authors.initials: M
authors.lastname: Fiore
authors.forename: I
authors.initials: I
authors.lastname: Scotese
authors.forename: E
authors.initials: E
authors.lastname: Cosentini
authors.forename: M P
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: C
authors.initials: C
authors.lastname: Turco
authors.forename: A
authors.initials: A
authors.lastname: Petrella
authors.forename: L
authors.initials: L
authors.lastname: Notarangelo
authors.forename: S
authors.initials: S
authors.lastname: Venuta
mesh_terms: D017209:Apoptosis; D002453:Cell Cycle; D002675:Child, Preschool; D053938:DNA Fragmentation; D006801:Humans; D016130:Immunophenotyping; D008213:Lymphocyte Activation; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000276:immunology*