Thus it is plausible, that a mutation in the TNF domain of ectodysplasin-A, leads to impaired binding of both isoforms to their receptors (Schneider et al. 2001), subsequently leading to a disrupted EDA/NF-κB signaling pathway and manifesting itself in XLHED. Here, NFKB1 is linked to X-linked hypohidrotic ectodermal dysplasia.