uni'wissen 01-2012_ENG

The four letters SCID might not sound harmful, but as a diagnosis they mean terrifying news for the parents of an afflicted child. Doctors use this acronym to refer to “severe combined immu nodeficiency,” a disorder that leads to death in the first year of life if the cause is not identified in time. This form of immunodeficiency is very rare: Only one to three of every 100,000 children suffer from it. In Germany, patients diagnosed with SCID are treated at the Center for Chronic Immunode ficiency (CCI) of the Freiburg University Medical Center, the largest reference center for the dis order in the country. “It is not possible to specify the clinical picture in the beginning,” says the clinical director of the center, Prof. Dr. Stephan Ehl. “These people are vulnerable to infections in general. Due to an impairment in their immune system, the infections accumulate and their course is much more severe than in other people with the same infection.” The disorder also leads to an impairment of the immune regulation, which can manifest itself in eczema, chronic diarrhea, an enlarged spleen, or enlarged lymph nodes. The doctor must work out the precise profile of the infection and establish a connec tion with the impaired regulation in order to determine which of the around 200 genetically defined immune defects the patient is afflicted with. “It is important for the pediatrician to be attentive early on and determine whether an infection with a pathological course is present.” “The difficult research on rare diseases is especially useful for learning about how the immune system works in general” The three-year-old boy Tim suffers from an immunodeficiency. He has thus received a bone marrow transplant at the Freiburg University Children’s Hospital. Dr. Thomas Vraetz examines him after the intervention. Photo: Kunz 9

uni'wissen 01-2012_ENG

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