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ALPS - Autoimmune Lymphoproliferative Syndrome
Summary
Autoimmune lymphoproliferative syndrome (ALPS) is a rare syndrome of impaired lymphocyte apoptosis, leading to lymphoproliferation and autoimmunity. Inheritance can occur in an autosomal-dominant or autosomal-recessive fashion or may arise due to somatic mutations in haematopoietic progenitors. Mutations in CD95, CD95L, Caspase 8 and Caspase 10 have been described in ALPS syndrome. However, the clinical, immunological and genetic presentation of the disease is very heterogeneous. Many patients with lymphoproliferation and autoimmunity therefore remain without diagnosis.
To improve this situation, we have etablished a registry and offer a careful standardized clinical, immunological and genetic analysis for these patients. On this basis, we define phenotypic clusters, in particular of those patients who remain without a molecular diagnosis. We will use this approach for the identification of novel biomarkers for diagnosis and monitoring of the disease, a better understanding of the immunological consequences of mutations in known genes mutated in ALPS and ultimately for the identification of new genes causing this complex disorder of immune regulation.
Cooperation Partners
- API - Arbeitsgemeinschaft Pädiatrische Immunologie
- Klaus Schwarz, Institut für Transfusionsmedizin, Universität Ulm
- Joachim Roesler, Angela Roesen-Wolff, Immunologie, TU Dresden
Funding
BMBF PID-NET consortium „Genetic and immunological variability in Autoimmune Lymphoproliferative Syndrome (ALPS)”
Publications
For an up-to-date list of publications by Prof. Stephan Ehl please see the PubMed search:
