Related Experiment Video
Updated: Jul 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Blau syndrome with NOD2 mutation in a 54-year-old man: A case report
Zhiyan Wang1, Mingdong Yang1, Qunqun Zhang1
1Department of Immunology and Rheumatology, Shouguang People's Hospital, Shouguang, China.
Abstract:
Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical history and genetic analysis. This case report will further help clinicians to be aware of this rare clinical entity for correct diagnosis and proper treatment.
Related Concept Videos
Genetic Lingo
Pleiotropy
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
Pedigree Analysis
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

