Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency
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- Kawai Tomoki
- Department of Pediatrics, Kyoto University Graduate School of Medicine
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- Nishikomori Ryuta
- Department of Pediatrics, Kyoto University Graduate School of Medicine
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- Heike Toshio
- Department of Pediatrics, Kyoto University Graduate School of Medicine
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抄録
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-κB (NF-κB) essential modulator (NEMO) for X-linked EDA-ID (XL-EDA-ID) and IκBα for autosomal-dominant EDA-ID (AD-EDA-ID). Both genes are involved in NF-κB activation, such that mutations or related defects cause impaired NF-κB 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.<br>
収録刊行物
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- Allergology International
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Allergology International 61 (2), 207-217, 2012
一般社団法人日本アレルギー学会
