Fig. 1.

Right lower extremity with signs of ectodermal dysplasia (A). Radiological findings of osteopetrosis with increased bone intensity, bone-within-bone appearance of the iliac and ischial bones (B), and of femoral epiphyses (B′). Functional test evaluation performed by ELISA: impaired IL-6 production in patient after 48 h of activation of whole blood with IL-1β, LPS, and S aureus Cowan I (SAC) (C) and impaired IL-10 production after 48 h of activation with TNF-α. Increased IL-6 and IL-10 production after PMA/Ionomycin stimulation (C′). The results (C and C′) are representative of two tests