Zusammenfassung
Primäre Defekte des Immunsystems können sich bei verschiedenen Individuen entweder in früher Kindheit, spät im Erwachsenenalter oder auch nie manifestieren. Die verschiedenen Phänotypen können teilweise durch die Genotypanalyse oder—bei weiblichen Patienten und X-chromosomalem Erbgang—durch die altersabhängige Verschiebung der Lyonisation erklärt werden. Eine wichtige Rolle spielen wahrscheinlich auch kompensatorische Immunmechanismen. Das Erregerspektrum eines adulten primären Immundefektsyndroms stimmt im Wesentlichen mit demjenigen der juvenilen Form überein. Nicht selten stehen bei den adulten Formen klinisch nicht die Infektkomplikationen, sondern assoziierte Phänomene wie Granulombildung, Autoimmunität oder Neoplasie im Vordergrund. Neben einer adäquaten, erregerspezifischen Antibiose stehen heute für einige primäre Immundefizienzen spezifische Substitutionstherapien in Form von humanem Immunglobulin G Präparationen, rekombinanten Zytokinen oder Enzymen zur Verfügung. Der Einsatz dieser Therapieformen bedingt allerdings eine genaue diagnostische Klassifikation des immunologischen Defekts. Adulte primäre Immundefektsyndrome stellen daher eine Herausforderung für den Kliniker und für den Molekularbiologen dar.
Abstract
Different individuals with the same kind of primary immunodeficiency may start having symptoms from early childhood on, or alternatively much later in adult life, or never. The differences in phenotype can only partly be deduced from genotype-analysis or—in case of female patients with X-linked diseases—from age-related skewing of lyonisation. The role of compensatory immune mechanisms is less clear. The microbial spectrum of infections is usually the same for both adult and infantile forms of a special primary immunodeficiency syndrome. Yet, many of the adult forms are associated with non-infectious complications, such as granuloma formation, autoimmunity or tumors. Besides standard antibiotic treatment and IgG replacement therapy, there are now different cytokine- or enzyme-replacement regimens available for some of the primary immunodeficiencies. However, exact diagnostic classification of the immunodeficiency should be obtained before such treatment modalities are used. Adult primary immunodeficiency syndromes therefore represent a challenge to both clinicians and molecular biologists.
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Gadola, S., Salzer, U., Schultz, H. et al. Adult-manifestierende primäre Immundefizienzen. Internist 45, 912–922 (2004). https://doi.org/10.1007/s00108-004-1230-7
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DOI: https://doi.org/10.1007/s00108-004-1230-7