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Patienten mit angeborenen Defekten der Immunität stellen sich Ärztinnen und Ärzten auf unterschiedlichste Weise vor, bei Weitem nicht nur durch gehäufte oder schwere Infektionen. Die Aufklärung der genetischen und molekularen Grundlagen von „Inborn Errors of Immunity“ (IEI) trägt fundamental zum Verständnis der Bedeutung nicht-redundanter Bestandteile für das menschliche Immunsystem bei. Beispiele aus einer großen immunologischen Ambulanz am Helios Klinikum Krefeld werden hier vorgestellt.
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