Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

作者：Kawai Tomoki; Nishikomori Ryuta^*; Heike Toshio

来源：Allergology International, 2012, 61(2): 207-217.

DOI：10.2332/allergolint.12-RAI-0446

• anhidrotic ectodermal dysplasia with immunodeficiency
• immunodeficiency
• inflammation
• NEMO
• NF-kappaB inhibitor alpha

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody responses to polysaccharides, hypogammaglobulinemia, hyper-IgM syndrome, impaired natural killer cell cytotoxicity, and autoimmune diseases. Two genes responsible for EDA-ID have been identified: nuclear factor-kappa B (NF-kappa B) essential modulator (NEMO) for X-linked EDA-ID (XL-EDA-ID) and l kappa B alpha for autosomal-dominant EDA-ID (AD-EDA-ID). Both genes are involved in NF-kappa B activation, such that mutations or related defects cause impaired NF-kappa B signaling. In particular, NEMO mutations are scattered across the entire NEMO gene in XL-EDA-ID patients, which explains the broad spectrum of clinical manifestations and the difficulties associated with making a diagnosis. In this review, we focus on the pathophysiology of EDA-ID and different diagnostic strategies, which will be beneficial for early diagnosis and appropriate treatment.

• 出版日期2012-6