[Hyper-IgD-syndrome]

We report on a 6-year-old Romanian girl with recently diagnosed hyper-IgD-syndrome. The leading symptom of this rare disease are periodic pyrexia, joint involvements (arthralgias/arthritis) and swollen lymph nodes. A permanent increase of alpha 1-acid glycoprotein fucosylation indicates persisting inflammation. Most important in differential diagnosis in familial Mediterranean fever. Therapy is merely supportive as yet, the long-term outlook seems good despite duration of the illness.

the hyper-IgD-syndrome must be considered in cases of otherwise unexplained periodic fever.