Blau syndrome with NOD2 mutation in a 54‐year‐old man: A case report

Abstract

AbstractBlau 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.