Becker Mara L, Martin Tammy M, Doyle Trudy M, Rosé Carlos D
Section of Rheumatology, Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, and Oregon Health and Science University, Portland, USA.
Arthritis Rheum. 2007 Apr;56(4):1292-4. doi: 10.1002/art.22509.
This is the first report of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates the continued evolution of the phenotype of a disease initially conceived as a familial inflammatory granulomatous disease limited to the triad of synovitis, dermatitis, and uveitis.
这是首例关于一名患有布劳综合征且CARD15突变阳性的患者的报告，该患者表现出间质性肺病，这一特征在历史上被认为不存在于布劳综合征中，却是成人结节病典型的表现。该病例说明了一种最初被认为是局限于滑膜炎、皮炎和葡萄膜炎三联征的家族性炎症性肉芽肿病的疾病表型的持续演变。
