Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
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.
Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Tomoki
T
Kawai
Ryuta
R
Nishikomori
Toshio
T
Heike
D000818:Animals; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics; D020672:I-kappa B Proteins / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000072000:NF-KappaB Inhibitor alpha; D016328:NF-kappa B / Q000276:immunology / Q000378:metabolism*; D015398:Signal Transduction / Q000235:genetics / Q000276:immunology
D020672:I-kappa B Proteins; C491731:IKBKG protein, human; D016328:NF-kappa B; C000606204:NFKBIA protein, human; D000072000:NF-KappaB Inhibitor alpha; D051550:I-kappa B Kinase