Clinical features of patients with PRKDC mutations. Pt1: A, family tree; B, positive antinuclear antibody levels; C, computed tomographic scan showing nodular lung lesions with infiltrate (left panel) and spleen granulomatous lesions (right panel); D, skin granulomatous lesion of the limb (left panel) and elbow (right panel); and E, epithelioid noncaseating granulomas from skin biopsy specimens. Pt 2: F, family tree; G, hepatomegaly with splenic granulomatosis (computed tomographic scan); H, caseating granulomas from spleen biopsy specimens; and I, schematic representation of the DNA-PKcs protein and the mutations identified in Pt1 and Pt2.