Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency
Open Access
- 1 January 2012
- journal article
- review article
- Published by Japanese Society of Allergology in Allergology International
- Vol. 61 (2), 207-217
- https://doi.org/10.2332/allergolint.12-rai-0446
Abstract
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 treatmentKeywords
This publication has 41 references indexed in Scilit:
- The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutationJournal of Allergy and Clinical Immunology, 2004
- A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiencyJCI Insight, 2003
- Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasiaNature Immunology, 2001
- Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infectionAmerican Journal of Medical Genetics, 2001
- X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signalingNature Genetics, 2001
- Anhidrotic ectodermal dysplasia associated with specific antibody deficiencyEuropean Journal of Pediatrics, 1996
- Ectodermal dysplasia and immunodeficiency.Archives of Disease in Childhood, 1995
- Ectodermal dysplasias: A clinical classification and a causal reviewAmerican Journal of Medical Genetics, 1994
- Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal DysplasiaNeuropediatrics, 1992
- Acute Miliary Tuberculosis in a Child with Anhidrotic Ectodermal DysplasiaPediatric Dermatology, 1986