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[Apoptosis required for maintenance of homeostasis: familial hemophagocytic lymphohistiocytosis caused by too little cell death].

Apoptosis or programmed cell death is essential for the maintenance of tissue homeostasis. Recent studies have implicated the dysregulation of apoptosis in a plethora of human diseases. Hence, perturbation of the death program intrinsic to every cell may result in essentially too little or too much apoptosis, which may in turn lead to proliferative or degenerative diseases respectively. In the present review, we discuss our current molecular understanding of the apoptotic process and its possible role in human disease, with particular emphasis on the rare and invariably fatal disease of early childhood, termed familial hemophagocytic lymphohistiocytosis, in which mutations in the perforin gene were recently identified.