A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

摘要

A patient presented to us with autosomal-dominant anhidrotic ectodermal dysplasia with immune deficiency syndrome (EDA-ID). By using a rapid flow cytometric screening system, we detected a novel mutation of the IKBA gene in the patient.Toll-like receptors are one of the major groups of pathogen-associated molecular pattern recognition receptors in the innate immune system. Following Toll-like receptor activation, intracel-lular signaling components such as interleukin-1 receptor-associated kinase 4 (IRAK4) and NF-kappa-B essential modulator (NEMO) are sequentially activated. This leads to the degradation of inhibitor of kappaB (IkappaB), which causes the activation of nuclear factor-KB (NF-kB) and expression of inflammatory cytokines. Recently, defects in various components of this signaling pathway have been reported; IRAK4 deficiency was seen to cause high susceptibility to bacterial infections such as Streptococcus pneumoniae, and NEMO deficiency was observed to lead to X-linked recessive anhidrotic ectodermal dysplasia with immune deficiency syndrome. In 2003, a hypermorphic mutation of the IkappaBalpha gene was reported as another causative gene defect for EDA-ID. As the hereditary form of this disease is autosomal dominant, it is termed AD-EDA-ID.