Blau syndrome with incidental multiple enchondromatosis  

作　　者：Xiaozhen Zhao Junmei Zhang Weiying Kuang Jianghong Deng Xiaohua Tan Chao Li Shipeng Li Caifeng Li 

机构地区：[1]Department of Rheumatology,Beijing Children's Hospital,Capital Medical University,National Centre for Children's Health,Beijing,China [2]Department of Nephrology and Rheumatology,Children's Hospital Affiliated to Zhengzhou University,Zhengzhou,Henan,China [3]Department of Nephrology and Rheumatology,Henan Children's Hospital Zhengzhou Children's Hospital,Zhengzhou,Henan,China

出　　处：《Rheumatology & Autoimmunity》2024年第3期183-185,共3页风湿病与自身免疫（英文）

基　　金：Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority,Grand/Award Number:XTCX201819;National Regional Medical Center Opening Project,Grand/Award Number:NRMC0110;BCH Young Investigator Program(BCHYIP),Grant/Award Number:BCHYIP-3-39.

摘　　要：To the Editor,Blau syndrome(BS)is a rare autosomal dominant disorder that occurs early in childhood.It is caused by mutations in nucleotide-binding oligomerization domain-containing protein 2(NOD2),also known as caspase activation and recruitment domain 15(CARD15).NOD2 mutations result in the activation of nuclear factor-kappa B and induction inflammation.1 Some patients develop the disease in a familial manner,but sporadic cases can occur.The main clinical manifestations of BS are the triad of rash,arthritis,and iridocyclitis,while multiple aortitis,deafness,heart disease,liver,spleen,and central nervous system are also involved.2 The disease was first described by Dr.Blau in 1985.

关 键 词：NOD2 SPLEEN CLINICAL 

分 类 号：R738.3[医药卫生—肿瘤]