Stephan Ehl

Principal Investigator

Institute for Immunodeficiency,
Center for Chronic Immunodeficiency (CCI) &
Center for Pediatrics
Medical Center – University of Freiburg

Breisacher Str. 115
79106 Freiburg i. Brsg.

Current position

Professor, Director, Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI),
Medical Center – University of Freiburg

Academic training

1985 – 1992 Study of Medicine in Aachen, Erlangen and Munich

Scientific qualifications

2003 Habilitation in Pediatrics, University of Freiburg
(Mentor: Prof. M. Brandis)
1992 Dissertation in Medicine, University of Erlangen
(Supervisor: Prof. D. Seiler)

Postgraduate Positions

since 2019 Director, Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg
2012 – 2018 Medical Director, Center for Chronic Immunodeficiency,
Medical Center - University of Freiburg
2008 – 2011 Scientific Director, Center for Chronic Immunodeficiency,
Medical Center - University of Freiburg
2002 – 2008 Attending physician, Center for Pediatrics, Freiburg
1998 – 2002 Assistant physician, Center for Pediatrics, Freiburg
1994 – 1997 Postdoctorate, Institute for Experimental Immunology,
University of Zurich, Switzerland
1993 – 1994 Intern in Pediatrics, Children’s Hospital Ulm

Miscellaneous (Honors, Awards)

2020 Elected Member to German National Academy of Sciences Leopoldina
2016 Chaim Roifman Scholar Award
since 2015 Speaker SFB 1160
since 2008 Speaker CCI Freiburg
2001 Kind-Phillip-Prize of the German Society for Pediatric Hematology and Oncology
1999 Research Prize of the German Society for Pediatric Infectious Diseases
1998 Research Prize of the German-Austrian Society for Neonatology and Pediatric Intensive Care

link to all publications from S. Ehl: Pubmed

Publications based on CRC1160 funding

Kury P, Staniek J, Wegehaupt O, Janowska I, Eckenweiler M, Korinthenberg R, Japaridze N, Pendziwiat M, Helbig I, Verhoeyen E, Jung J, Garcia de Oteyza AC, Proietti M, Phirtskhalaishvili T, Rtskhiladze I, Nielsen PJ, Ehl S, Speckmann C, Rizzi M. 2021. Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.  J Allergy Clin Immunol. 8:S0091-6749(21)00174-3. doi: 10.1016/j.jaci.2021.01.027.

Ohishi Y, Ammann S, Ziaee V, Strege K, Groß M, Amos CV, Shahrooei M, Ashournia P, Razaghian A, Griffiths GM, Ehl S, Fukuda M, Parvaneh N. 2020. Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.  Front Immunol. 11:612977. doi: 10.3389/fimmu.2020.612977.

Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E. 2020. Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 40(6):901-916. doi: 10.1007/s10875-020-00814-6. Epub 2020 Jul 7.

Wustrau K, Greil J, Sykora KW, Albert MH, Burkhardt B, Lang P, Meisel R, Wössmann W, Beier R, Schulz A, Bader P, Chada M, Kühl JS, Schlegel PG, Speckmann C, Gruhn B, Seidel M, Wawer A, Ozga AK, Janka G, Ehl S, Müller I, Lehmberg K. 2020. Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning. Pediatr Blood Cancer. Jul 3:e28523. doi: 10.1002/pbc.28523. Online ahead of print.

Gather, R., P. Aichele, N. Goos, J. Rohr, H. Pircher, T. Kogl, R. Zeiser, H. Hengel, A. Schmitt-Graff, C. Weaver, and S. Ehl. 2020. Trigger-dependent differences determine therapeutic outcome in murine primary hemophagocytic lymphohistiocytosis. Eur J Immunol. doi: 10.1002/eji.201948123. [Epub ahead of print].

Wegehaupt, O., K. Wustrau, K. Lehmberg, and S. Ehl. 2020. Cell Versus Cytokine – Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity. Front Immunol 11: 808.

Wegehaupt, O., M. Gross, C. Wehr, R. Marks, A. Schmitt-Graeff, M. Uhl, M. Lorenz, K. Schwarz, C. Kratz, C. Niemeyer, and S. Ehl. 2020. TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 67: e28302.

Zenke S, Palm MM, Braun J, Gavrilov A, Meiser P, Böttcher JP, Beyersdorf N, Ehl S, Gerard A, Lämmermann T, Schumacher TN, Beltman JB, Rohr JC. 2020. Quorum Regulation via Nested Antagonistic Feedback Circuits Mediated by the Receptors CD28 and CTLA-4 Confers Robustness to T Cell Population Dynamics. Immunity. 52(2):313-327.e7.

Thian, M., B. Hoeger, A. Kamnev, F. Poyer, S. Kostel Bal, M. Caldera, R. Jimenez-Heredia, J. Huemer, W. F. Pickl, M. Gross, S. Ehl, C. L. Lucas, J. Menche, C. Hutter, A. Attarbaschi, L. Dupre, and K. Boztug. 2020. Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. Haematologica. pii: haematol.2019.231399. doi: 10.3324/haematol.2019.231399. [Epub ahead of print]

Ammann, S., S. Fuchs, L. Martin-Martin, C. N. Castro, B. Spielberger, C. Klemann, R. Elling, M. Heeg, C. Speckmann, I. Hainmann, P. Kaiser-Labusch, G. Horneff, J. Thalhammer, R. G. Bredius, U. Z. Stadt, K. Lehmberg, I. Fuchs, C. von Spee-Mayer, P. Henneke, and S. Ehl. 2020. Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies. J Allergy Clin Immunol 145: 434-437 e434.

Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. 2020. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation. J Exp Med. 217(12):e20192275. doi: 10.1084/jem.20192275.

Dettmer, V., K. Bloom, M. Gross, K. Weissert, Aichele, S. Ehl, and T. Cathomen. 2019. Retroviral UNC13D gene transfer restores cytotoxic activity of T cells derived from familial hemophagocytic lymphohistiocytosis type 3 patients in vitro. Hum Gene Ther. 30(8): 975-984.

von Spee-Mayer, C., V. Koemm, C. Wehr, S. Goldacker, G. Kindle, A. Bulashevska, M. Proietti, Grimbacher, S. Ehl, and K. Warnatz. 2019. Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency. Clin Immunol. 203:59-62.

Heeg, M., S. Ammann, C. Klemann, M. Panning, V. Falcone, H. Hengel, K. Lehmberg, U. Zur Stadt, K. Wustrau, G. Janka, and Ehl. 2018. Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease. Pediatr Blood Cancer 65: e27344.

Schwab, C., A. Gabrysch, P. Olbrich, V. Patino, Warnatz, D. Wolff, A. Hoshino, M. Kobayashi, K. Imai, M. Takagi, I. Dybedal, J. A. Haddock, D. Sansom, J. M. Lucena, M. Seidl, A. Schmitt-Graff, V. Reiser, F. Emmerich, N. Frede, A. Bulashevska, U. Salzer, D. Schubert, S. Hayakawa, S. Okada, M. Kanariou, Z. Y. Kucuk, H. Chapdelaine, L. Petruzelkova, Z. Sumnik, A. Sediva, M. Slatter, P. D. Arkwright, A. Cant, H. M. Lorenz, T. Giese, V. Lougaris, A. Plebani, C. Price, K. E. Sullivan, M. Moutschen, J. Litzman, T. Freiberger, F. L. van de Veerdonk, M. Recher, M. H. Albert, F. Hauck, S. Seneviratne, J. P. Schmid, A. Kolios, G. Unglik, C. Klemann, C. Speckmann, S. Ehl, A. Leichtner, R. Blumberg, A. Franke, S. Snapper, S. Zeissig, C. Cunningham-Rundles, L. Giulino-Roth, O. Elemento, G. Duckers, T. Niehues, E. Fronkova, V. Kanderova, C. D. Platt, J. Chou, T. Chatila, R. Geha, E. McDermott, S. Bunn, M. Kurzai, A. Schulz, L. Alsina, F. Casals, A. Deya-Martinez, S. Hambleton, H. Kanegane, K. Tasken, O. Neth, and B. Grimbacher. 2018. Phenotype, penetrance, and treatment of 133 CTLA-4-insufficient individuals. J Allergy Clin Immunol. 142: 1932-1946.

Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. 2018. A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation. J Allergy Clin Immunol. 142(1):317-321.e8.

Prestipino A, Emhardt AJ, Aumann K, O’Sullivan D, Gorantla SP, Duquesne S,Melchinger W, Braun L, Vuckovic S, Boerries M, Busch H, Halbach S, Pennisi S, Poggio T, Apostolova P, Veratti P, Hettich M, Niedermann G, Bartholomä M,Shoumariyeh K, Jutzi JS, Wehrle J, Dierks C, Becker H, Schmitt-Graeff A, Follo M, Pfeifer D, Rohr J, Fuchs S, Ehl S, Hartl FA, Minguet S, Miething C, Heidel FH, Kröger N, Triviai I, Brummer T, Finke J, Illert AL, Ruggiero E, Bonini C, Duyster J, Pahl HL, Lane SW, Hill GR, Blazar BR, von Bubnoff N, Pearce EL, Zeiser R. 2018. Oncogenic JAK2(V617F) causes PD-L1 expression, mediating immune escape in myeloproliferative neoplasms. Sci Transl Med. 10(429). pii:eaam7729.

Ghosh S, Carmo M, Calero-Garcia M, Ricciardelli I, Bustamante Ogando JC, Blundell MP, Schambach A, Ashton-Rickardt PG, Booth C, Ehl S, Lehmberg K, Thrasher AJ, Gaspar HB. 2018. T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestations. J Allergy Clin Immunol. 142(3):904-913.e3.

Weiss ES, Girard-Guyonvarc’h C, Holzinger D, de Jesus AA, Tariq Z, Picarsic J,Schiffrin EJ, Foell D, Grom AA, Ammann S, Ehl S, Hoshino T, Goldbach-Mansky R, Gabay C, Canna SW. “Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.” Blood.
2018Mar29;131(13):1442-1455. doi: 10.1182/blood-2017-12-820852. Epub 2018 Jan 11

Ammann S, Lehmberg K, Zur Stadt U, Klemann C, Bode SFN, Speckmann C, Janka G, Wustrau K, Rakhmanov M, Fuchs I, Hennies HC, Ehl S; HLH study of the GPOH. 2017. Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 37(8):770-780.

Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S. 2017. Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation. J Allergy Clin Immunol. 140(6):1721-1724.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT. 2017. Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. Front Immunol. 8:426.

Hartz, B., R. Marsh, K. Rao, J. I. Henter, M. Jordan, L. Filipovich, P. Bader, R. Beier, B. Burkhardt, R. Meisel, A. Schulz, B. Winkler, M. H. Albert, J. Greil, G. Karasu, W. Woessmann, S. Corbacioglu, B. Gruhn, W. Holter, J. S. Kuhl, P. Lang, M. G. Seidel, P. Veys, A. Lofstedt, S. Ammann, Ehl, G. Janka, I. Muller, and K. Lehmberg. 2016. The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis. Blood 127: 3281-3290.

Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M. 2016. Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. Blood 127:2193-2202.

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. 2016. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 127(8):997-1006.