Interdisziplinäre AWMF-Leitlinie zur Diagnostik von primären Immundefekten (S2k)

Zusammenfassung

Hintergrund:

Primäre Immundefekte sind potenziell lebensbedrohliche Erkrankungen. Auch wenn in den letzten Jahren zunehmend mehr immunologische Defekte klinisch und molekulargenetisch charakterisiert wurden, so werden primäre Immundefekt in der täglichen Praxis oftmals noch zu spät erkannt. Vor dem Hintergrund, dass eine frühe Diagnosestellung die Morbidität und Mortalität der betroffenen Patienten senken kann, wurde daher im Auftrag der Arbeitsgemeinschaft Pädiatrische Immunologie (API) und der Deutschen Gesellschaft für Immunologie (DGfI) eine interdisziplinäre S2-Leitlinie zur Diagnostik von Primären Immundefekten erstellt.

Methodik:

Grundlage der Leitlinie sind im Wesentlichen Expertenmeinungen auf der Basis bereits verfügbarer Leitlinien und Empfehlungen aus Deutschland und anderen Ländern, ergänzt durch Daten aus Studien, die die getroffenen Kernaussagen unterstützen (Evidenzgrad III). Unter Beteiligung von 20 Vertretern aus 14 Fachgesellschaften, Verbänden und Vereinigungen entstand eine konsensbasierte Leitlinie mit repräsentativer Entwicklergruppe und strukturierter Konsensusfindung (S2k). Der nominale Gruppenprozess zur Konsensusfindung fand unter Moderation einer Vertreterin der Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (e.V.) (AWMF) im April 2011 statt.

Ergebnisse:

Die aufgestellten Kernaussagen wurden diskutiert und im strukturierten Konsensverfahren abgestimmt. Insbesondere wurden modifizierte Warnzeichen für primäre Immundefekte formuliert und immunologische Notfallsituationen definiert.

Abstract

Background:

Primary immunodeficiencies are potentially life-threatening diseases. Over the last years, the clinical phenotype and the molecular basis of an increasing number of immunological defects have been characterized. However, in daily practice primary immunodeficiencies are still often diagnosed too late. Considering that an early diagnosis may reduce morbidity and mortality of affected patients, an interdisciplinary guideline for the diagnosis of primary immunodeficiencies was developed on behalf of the Arbeitsgemeinschaft Pädiatrische Immunologie (API) and the Deutsche Gesellschaft für Immunologie (DGfI).

Methods:

The guideline is based on expert opinion and on knowledge from other guidelines and recommendations from Germany and other countries, supplemented by data from studies that support the postulated key messages (level of evidence III). With the contribution of 20 representatives, belonging to 14 different medical societies and associations, a consensus-based guideline with a representative group of developers and a structured consensus process was created (S2k). Under the moderation of a representative of the Association of the Scientific Medical Societies in Germany (AWMF) the nominal group process took place in April 2011.

Results:

The postulated key messages were discussed and voted on following a structured consensus procedure. In particular, modified warning signs for primary immunodeficiencies were formulated and immunological emergency situations were defined.

Schlüsselwörter

primäre Immundefekte - Leitlinie - Diagnostik - Warnzeichen - Kinder - Erwachsene

Key words

primary immunodeficiency - guideline - diagnostics - warning signs - children - adults

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