Monatsschrift Kinderheilkunde

, Volume 157, Issue 9, pp 870–877

Angeborene Immundefekte als Multisystemerkrankungen



Primäre Immundefekte können sich nicht nur durch eine pathologische Infektionsanfälligkeit, sondern auch mit charakteristischen Krankheitszeichen an anderen Organsystemen manifestieren. Diese Auffälligkeiten an Knochen, Zähnen, Haaren und der Haut können Leitsymptome für die Diagnosestellung des zugrunde liegenden primären Immundefektes sein. Der vorliegende Beitrag erläutert einige dieser Multisystemerkrankungen mit Immundefekt von der Definition über die Diagnosestellung zu aktuellen Therapiemöglichkeiten.


Multisystemerkrankung Syndrom Immundefekt Minderwuchs Infektionsanfälligkeit 

Congenital immune defects as examples of multisystem diseases


Primary immunodeficiency diseases are not only characterized by an improper immune defence against infections but in addition can present with characteristic abnormalities of other organs. These findings can affect bone, teeth, hair, and skin and may direct diagnostic considerations leading to genetically defined disorders. This article summarizes some of these multisystem disorders with immunodeficiency including definition, diagnostic approach, and current therapy options.


Multisystem disease Syndrome Immune defect Short stature Susceptibility to infection 


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Copyright information

© Springer Medizin Verlag 2009

Authors and Affiliations

  1. 1.Dr. von Haunersches KinderspitalLudwig Maximilians UniversitätMünchenDeutschland
  2. 2.Universitätskinderklinik, Medizinische HochschuleHannoverDeutschland

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