Warnzeichen für und moderne Diagnostik von angeborenen Störungen des Immunsystems

Abstract

BackgroundThe early diagnosis of congenital disorders of the immune system decisively improves the prognosis of patients.Material and methodsLiterature search in PubMed and in guidelines.ResultsMore than 400 clinical conditions are known to be congenital disorders of the immune system and are manifested in a multitude of ways with infections, autoimmune diseases, autoinflammation, lymphoproliferation, malignant diseases and syndromic features. The increasing number of distinct inborn errors of immunity require more and more extensive catalogues of warning signs which are increasingly difficult to implement into routine clinical practice. The guidelines of the Association of the Scientific Medical Societies in Germany (AWMF) provide the clinician with a handbook for assessing susceptibility to infections. In addition to the catalogues of warning signs on susceptibility to infections (ELVIS) and immune dysregulation (GARFIELD), other aspects such as abnormal laboratory findings are included. Furthermore, due to the heterogeneity of congenital disorders of the immune system early comprehensive genetic diagnostics are currently recommended in order to recognised monogenetically linked immune defects and to initiate individualised treatment. The interdisciplinary collaboration between a paediatrician in private practice, a specialist in immunology and possibly a human geneticist has proven to be particularly effective.ConclusionThe recognition of inborn errors of immunity requires the perception of differences to “normal” clinical conditions. Recognition of warning signs, basic immunological diagnostics and genetic analyses can often lead to an early diagnosis of inborn errors of immunity and thus improve the prognosis of the patient.