Figure 1

Pedigrees of Family 1 and Family 2. Inheritance of the CASP10 and TNFRSF6 mutations and electropherograms of the sequences performed on the genomic DNA of Pt.1 and Pt.2. Circles represent females; squares, males; subjects carrying a CASP10 mutation are marked in black, those with a TNFRSF6 are marked with striped lines. Numbers indicate the cell survival upon Fas triggering by mAb in T cell lines generated form each subject; Fas function was defective in Pt.1 and borderline in the other subjects (normal values of cell survival: median 60%, 95th percentile 82%)