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Stefan Ehl Profile Page
Stefan Ehl


Lab: Prof. Dr. Stephan Ehl
Department: Centre of Chronic Immunodeficiency
University Medical Center
Address: Breisacher Straße 115
79106 Freiburg
Phone: +49 (0)761 270-77695
E-mail: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
Lab homepage:
PhD positions available: YES
Research Area: Immunology and Virology
Research Interests: • Genetic disorders of T cell development, activation and differentiation:
Profound Combined Immunodeficiencies (P-CID)
• Genetic disorders of T cell cytotoxicity:
Hemophagocytic Lymphohistiocytosis (HLH)
• Genetic disorders of T cell homeostasis, differentiation and survival:
Primary immunodeficiencies associated with autoimmunity and lymphoproliferation („AL-PID“)


Education & Training: 1985-91 Study of Medicine in Aachen, Erlangen and München
Employment & Experience: 1993-94 Assistenzarzt, Universitäts-Kinderklinik Ulm
1994-95 Postgraduate Course for Experimental Medicine and Biology, Universität Zürich
1995-97 Post-Doc, Institute of Exp. Immunology, University of Zürich
1998-02 Assistenzarzt, Universitäts-Kinderklinik Freiburg
since 2002 Oberarzt, Universitäts-Kinderklinik Freiburg
2003 Habilitation in Pediatrics
since 2008 Director, Centre of Chronic Immunodeficiency CCI


Honors and Awards:

1998                 Science Prize of German-Austrian Society for Neonatology and Pediatric Intensive Care

1999                 Research Prize of German Society for Pediatric Infectology
2001                 Kind-Phillip-Preis of Society for Pediatric Oncology and  Haematology (together with Simone Fulda, Ulm)


Selected Publications:

Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7. Abstract

Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19. Abstract

Hillen KM, Gather R, Enders A, Pircher H, Aichele P, Fisch P, Blumenthal B, Schamel WW, Straub T, Goodnow CC, Ehl S. T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: implications for human immunodeficiency. J Immunol. 2015 Mar 15;194(6):2725-34. doi: 10.4049/jimmunol.1400328. Epub 2015 Feb 11. Abstract

Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20. Abstract

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S. Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28. Abstract

Cathomen T, Ehl S. Translating the genomic revolution - targeted genome editing in primates. N Engl J Med. 2014 Jun 12;370(24):2342-5. doi: 10.1056/NEJMcibr1403629. No abstract available.

Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S. Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency. Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3. Abstract

Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S*, Schroeder ML*, Schwarz K*. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199. Abstract

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12. Abstract

Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012 Mar 22;119(12):2754-63. Abstract

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