Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations
| Autor: | Qingping Yao, Lan Zhou, Le Chu Su, Bo Shen, Kenneth J. Tomecki, Bijal A. Jayakar |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Adolescent Population Nod2 Signaling Adaptor Protein Dermatitis Dermatology Gene mutation Chest pain Young Adult NOD2 medicine Humans Prospective Studies Young adult education Blau syndrome Allele frequency Aged education.field_of_study Crohn's disease business.industry Skin Diseases Genetic Middle Aged medicine.disease digestive system diseases Phenotype Immunology Mutation Female medicine.symptom business |
| Zdroj: | Journal of the American Academy of Dermatology. 68(4) |
| ISSN: | 1097-6787 |
| Popis: | Objectives We sought to characterize a new category of autoinflammatory disease associated with nucleotide-binding oligomerization domain 2 ( NOD2 ) gene mutations. Methods A total of 22 patients were identified, inclusive of those reported previously. All had autoinflammatory phenotypes and NOD2 gene mutations that were prospectively studied between January 2009 and February 2012. Results All 22 patients were non-Jewish whites (13 women and 9 men). The mean age at diagnosis was 40.1 years (range 17-72), with a mean disease duration of 4.7 years (range 1-13). Three female patients were siblings. Common clinical features were weight loss (13/22), episodic self-limiting fever (13/22), dermatitis (19/22), and inflammatory polyarthritis/polyarthralgia (20/22). Gastrointestinal symptoms occurred in 13 patients, sicca-like symptoms in 9, and recurrent chest pain in 5. All patients carried the NOD2 gene mutations, with the intervening sequence 8 +158 variant in 21 and the R702W variant in 8. Limitations The NOD2 allelic frequency may need to be examined in a larger population with systemic autoimmune diseases. Conclusions The characteristic clinical phenotype, notably dermatitis, coupled with certain NOD2 variants constitutes a new autoinflammatory disease entity, which we have named as NOD2 -associated autoinflammatory disease. |
| Databáze: | OpenAIRE |
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