However, several studies have shown that the BS-NOD2 variants exhibit defective MDP-mediated NF-kB activation in HEK293T cells, decreased cytokine responses in monocytes, monocyte-derived dendritic cells, macrophages from BS patients [43], as well as macrophages derived from induced pluripotential stem cells (iPS cells) bearing BS associated NOD2 mutations [44], and macrophages from R314Q mutant mice [45]. This evidence concerns the gene NFKB1 and Bloom syndrome.