Professor of Child and Adolescent Medicine
Department of Paediatrics and Adolescent Medicine
Medical University of Vienna
Lazarettgasse 14 AKH BT 25.3, 1090 Vienna, Austria
Phone: +43 (0)1 40160 - 70069
FAX: +43 (0)1 40160 - 970000
Primary immunodeficiency, high-throughput genomic approaches, autoimmunity and autoinflammation, molecular pathophysiology of inherited defects of the immune system.
Genetics and molecular pathophysiology of inherited deficiencies of the human immune system
The ultimate relevance of a component of the innate immune system in human physiology is uncovered by the consequence of mutations in the associated gene.
We have integrated systems genomics tools to mine, uncover and pathway-map primary deficiencies with high efficiency. Primary immunodeficiency disorders are characterized by recurrent and life-threatening infections on one hand, while other patients show a phenotype of predominant autoimmunity/autoinflammation.
Our work profits from an exquisite combination of access to a large collection of informative pedigrees, high throughput genetics/genomics including high-resolution SNP arrays and “next generation” DNA sequencing as well as functional proteomics of protein complexes.
This discovery engine is complemented by biochemical, immunological and imaging technologies to obtain molecular gene-to-phenotype relationships for a number of components.
Our investigations are expected to contribute significantly to our understanding of the molecular processes that structure our innate immune system.
These studies will not only enable a more comprehensive molecular classification system of primary immunodeficiency disorders, but also improve patient care by enabling molecular diagnosis and classification.
Our investigations may serve as the basis for future development of more specific therapies targeting affected signaling cascades.
More information about the various research projects can be found <here>
Salzer E*, Santos-Valente E*, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Förster-Waldl E, Boztug K (2013). B cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood 121:3112-3116.
Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Avedillo Diez I, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maròdi L, von Kalle C, Klein C (2010). Correction of Wiskott-Aldrich syndrome by stem cell gene therapy. N Engl J Med 363:1918-27