case_images: PMC5226985_01
case_images: 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-1beta, LPS, and S aureus Cowan I (SAC) (C) and impaired IL-10 production after 48 h of activation with TNF-alpha. Increased IL-6 and IL-10 production after PMA/Ionomycin stimulation (C'). The results (C and C') are representative of two tests
case_images: 10875_2016_350_Fig1_HTML.jpg
case_images: PMC5226985_01_10875_2016_350_Fig1_HTML.jpg
case_images: Fig1
case_images: He presented signs of anhidrotic ectodermal dysplasia with fine and sparse hair, absent eyebrows, thin translucent skin with dry eczema, and hyperkeratosis (Fig. 1(A)). Radiologic evaluation was performed and the images showed "bone-in-bone appearance" of the femoral, iliac, and ischial bones bilaterally, consistent with a diagnosis of osteopetrosis (Fig. 1(B, B')). TNF-alpha, IL-1beta, and other agonists of TLRs. The response of the patient's blood cells to IL-1beta, LPS (agonist of TLR-4), and SAC was abnormal, in terms of IL-6 production (Fig. 1(C)). IL-10 production (Fig. 1(C')). IL-6 and IL-10 production was measured by enzyme-linked immunosorbent assay (ELISA) after 48 h of activation.
case_images: The NEMO gene structure and its zinc finger (ZF) which extends from amino acid residues 397 to 419. The three cysteine residues and the single histidine (H413) residue that coordinate a zinc ion are indicated. H413 is high conserved among different species (modified by Shifera AS The zinc finger domain of IKKgamma (NEMO) protein in health and disease J. Cell. Mol. Med.)
case_images: 10875_2016_350_Fig2_HTML.jpg
case_images: PMC5226985_01_10875_2016_350_Fig2_HTML.jpg
case_images: Fig2
case_images: The substituted histidine is highly conserved among different species (Fig. 2).