Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations - 21/03/13
, Le-Chu Su, MD, PhD b, Kenneth J. Tomecki, MD c, Lan Zhou, MD, PhD d, Bijal Jayakar, MD a, Bo Shen, MD bAbstract |
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.
Le texte complet de cet article est disponible en PDF.Key words : Blau syndrome, Crohn's disease, dermatitis, intervening sequence 8+158, NOD2-associated autoinflammatory disease, NOD2 gene mutation, R702W
Abbreviations used : AUID, GI, IVS, NAID, NFκB, NOD2
Plan
| Funding sources: None. |
|
| Conflicts of interest: None declared. |
Vol 68 - N° 4
P. 624-631 - avril 2013 Retour au numéro
Article précédent
- Validation of the Cutaneous Lupus Disease Area and Severity Index (CLASI) using physician- and patient-assessed health outcome measures
- Meenakshi Jolly, Nazia Kazmi, Rachel A. Mikolaitis, Winston Sequeira, Joel A. Block
- Mohs micrographic surgery for extramammary Paget disease: A pooled analysis of individual patient data
- Jung Min Bae, Yoon Young Choi, Heesu Kim, Byung Ho Oh, Mi Ryung Roh, KyoungAe Nam, Kee Yang Chung
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?