Zusammenfassung
Primäre Immundefekterkrankungen stellen eine komplexe Gruppe von genetischen Störungen dar, die nicht nur auf molekularer Ebene, sondern auch im Hinblick auf ihre klinische Manifestation sehr heterogener Natur sind. Die molekulare Aufklärung erlaubt heute in vielen Fällen eine präzise Diagnostik sowie eine risikoadaptierte spezifische Therapie. Als »Modellerkrankungen« zur Entwicklung zellulärer und genetischer Therapieverfahren und zum pathophysiologischen Verständnis des humanen Immunsystems werden Immundefekte auch in Zukunft eine paradigmatische Rolle spielen.
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Albert, M., Klein, C. (2018). Immundefekte. In: Niemeyer, C., Eggert, A. (eds) Pädiatrische Hämatologie und Onkologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-43686-8_4
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