Open AccessCombined immunodeficiency phenotype associated with inappropriate spontaneous and activation‐induced apoptosis
Author(s) -
PIGNATA C.,
FIORE M.,
SCOTESE I.,
COSENTINI E.,
SPERANDEO M. P.,
TURCO C.,
PETRELLA A.,
NOTARANGELO L.,
VENUTA S.
Publication year - 1997
Publication title -
clinical & experimental immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.329
H-Index - 135
eISSN - 1365-2249
pISSN - 0009-9104
DOI - 10.1046/j.1365-2249.1997.3971295.x
Subject(s) - immunodeficiency , severe combined immunodeficiency , propidium iodide , immunology , apoptosis , phenotype , biology , immunopathology , primary immunodeficiency , programmed cell death , medicine , immune system , genetics , gene
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.