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Prof. Dr.
Stephan Ehl

Center for Chronic Immunodeficiency
Medical Director
Phone: 0049-761-270-77300


  • 1995-1998 PostDoc, Institute of Experimental Immunology, Zurich
  • 1998-2002 Attending physician,  Center for Pediatrics, Freiburg
  • 2002-2008 Attending physician, Center for Pediatrics, Medical Center – University of Freiburg
  • Since 2008 Full Professor (W3) and Medical Director, Center for Chronic Immunodeficiency (CCI) Freiburg
  • Since 2015 Speaker SFB 1160 “IMPATH“, Freiburg

Focus of research

  • Genetic bases of immunodeficiency
  • Cellular bases of immunodeficiency
  • Clinical studies on the diagnosis and therapy of immunodeficiency

Selected publications

  • Speckmann C, Doerken S, Aiuti A, … Ehl S. A prospective study on the natural history of patients with profound combined immunodefi ciency: An interim analysis. J Allergy Clin Immunol. 2017; 139(4):1302-1310.
  • Ammann S, Schulz A, Krägeloh-Mann I, … Ehl S. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016; 127(8):997-1006.
  • Fuchs S, Rensing-Ehl A, Pannicke U, … Ehl S. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 defi ciency. Blood. 2015; 126(14):1658-69.
  • Stepensky P, Rensing-Ehl A, Gather R, … Ehl S. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II defi ciency. Blood. 2015; 125(5):753-61.
  • Bryceson YT, Pende D, Maul-Pavicic A, … Ehl S. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012; 119(12):2754-63.

Research methods

  • Patient cohort combined immunodeficiencies
  • Patient cohort autoimmune-lymphoproliferative immunodeficiencies
  • Patient cohort haemophagocytic lymphohistiocytosis