Title |
Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations
|
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Published in |
Frontiers in immunology, January 2011
|
DOI | 10.3389/fimmu.2011.00061 |
Pubmed ID | |
Authors |
Michael D. Keller, Maureen Petersen, Peck Ong, Joseph Church, Kimberly Risma, Jon Burham, Ashish Jain, E. Richard Stiehm, Eric P. Hanson, Gulbu Uzel, Matthew A. Deardorff, Jordan S. Orange |
Abstract |
Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally derived structures. Many ED-associated genes have been described, of which ectodysplasin-A (EDA) is one of the more common. The NF-κB essential modulator (NEMO encoded by the IKBKG gene) is unique in that mutations result in severe humoral and cellular immunologic defects in addition to ED. We describe three unrelated kindreds with defects in both EDA and IKBKG resulting from X-chromosome crossover. This demonstrates the importance of thorough immunologic consideration of patients with ED even when an EDA etiology is confirmed, and raises the possibility of a specific phenotype arising from coincident mutations in EDA and IKBKG. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 20% |
Student > Bachelor | 4 | 16% |
Student > Master | 4 | 16% |
Student > Ph. D. Student | 3 | 12% |
Other | 2 | 8% |
Other | 3 | 12% |
Unknown | 4 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 24% |
Immunology and Microbiology | 6 | 24% |
Biochemistry, Genetics and Molecular Biology | 4 | 16% |
Agricultural and Biological Sciences | 3 | 12% |
Environmental Science | 1 | 4% |
Other | 0 | 0% |
Unknown | 5 | 20% |