Chun HJ, Zheng L, Ahmad M, et al. Nature. 2002;419:395–399

Defects in genes involved in the apoptosis (programmed cell death) of lymphocytes have been shown to cause disorders characterized by significant adenopathy and autoimmunity. This study defines a new defect in that category and characterizes the clinical presentation. Mutations in the caspase-8 gene not only affect apoptosis but also affect host defense. This article describes a heretofore unrecognized function of caspase-8 in lymphocyte activation.

The study relies on a single kindred with 2 affected children and the heterozygous parents and sibling. The carriers of the mutation were asymptomatic.

The authors carefully characterize the apoptosis of cells from the affected children as well as the activation of their lymphocytes. Traditional killing studies were performed to define the defect in apoptosis as well as flow cytometric determinations of T cell activation. Cytokine production and proliferation were also measured to delineate the defect...

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