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Angeborene Defekte der T- und B-Lymphozyten

Congenital T and B lymphocyte deficiencies

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Zusammenfassung

Im Gegensatz zu früheren klinischen Klassifikationen lassen sich angeborene T- und B-Zell-Defekte inzwischen zu einem sehr hohen Prozentsatz auf definierte Genmutationen zurückführen. Dieser Beitrag gibt einen Überblick über die derzeit bekannten Gendefekte und skizziert, welche Konsequenzen die Genveränderungen für die Physiologie der Lymphozytenentwicklung und die Funktionen der T- und B-Zellen haben. Darüber hinaus gewinnt die Kenntnis der genetischen Grundlagen dieser Erkrankungen in zunehmendem Maße therapeutische Bedeutung.

Abstract

In contrast to previous clinical classifications a high percentage of primary T and B cell immunodeficiencies are defined by specific gene defects. This report provides an overview over the presently known genetic defects and outlines the consequences of the genetic changes for the physiology of lymphocyte development and for the function of T and B cells. In addition knowledge about the genetic basis of these diseases gains increasing impact on therapeutic decisions.

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M. Hönig und J. Thiel: Koerstautorenschaft

K.W. und K.S. unterstützt durch: BMBF grant CCI-01E O0803

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Hönig, M., Thiel, J., Warnatz, K. et al. Angeborene Defekte der T- und B-Lymphozyten. Monatsschr Kinderheilkd 157, 853–860 (2009). https://doi.org/10.1007/s00112-009-1985-y

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