Principal Investigator

Institute for Immunodeficiency (IFI),
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)

2021 President of the German/Swiss/Austrian Working group for Pediatric Immunology (API)
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

Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D’Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher…See abstract for full author list. 2023. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015.

Wolf C, Fischer H, Kühl JS, Koss S, Abou Jamra R, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, Huber R, Hornung V, Lee-Kirsch MA. 2023. Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. J Allergy Clin Immunol. 2023 Aug 4:S0091-6749(23)00978-8. doi: 10.1016/j.jaci.2023.07.013.

Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. 2023. Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). Front Immunol. 14:1151166. doi: 10.3389/fimmu.2023.1151166.

Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. 2023.  The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. Apr 21:1-13. doi: 10.1007/s10875-023-01472-0.

Fox T, Bueren J, Candotti F, Fischer A, Aiuti A, Lankester A; AGORA Initiative; Booth C. Access to gene therapy for rare diseases when commercialization is not fit for purpose. Nat Med. 2023 Feb 13. doi: 10.1038/s41591-023-02208-8.

Maccari ME, Schneider P, Smulski CR, Meinhardt A, Pinto F, Gonzalez-Granado LI, Schuetz C, Sica MP, Gross M, Fuchs I, Kury P, Heeg M, Vocat T, Willen L, Thomas C, Hühn R, Magerus A, Lorenz M, Schwarz K, Rieux-Laucat F, Ehl S, Rensing-Ehl A. Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations. J Allergy Clin Immunol. 2023 Jan 5:S0091-6749(23)00001-5. doi: 10.1016/j.jaci.2022.11.028.

Weissert, K., S. Ammann, T. Kogl, V. Dettmer-Monaco, C.  Schell, T. Cathomen, S. Ehl, and P. Aichele. 2022. Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH). EMBO Mol Med: e16085. doi: 10.15252/emmm.202216085.

Leiding, J. W., T. P. Vogel, V. G. J. Santarlas, R. Mhaskar, M. R. Smith, A. Carisey, A. Vargas-Hernandez, M. Silva-Carmona, M. Heeg, A. Rensing-Ehl, B. Neven, J. Hadjadj, S. Hambleton, T. Ronan Leahy, K. Meesilpavikai, C. Cunningham-Rundles, C. M. Dutmer, S. O. Sharapova, M. Taskinen, I. Chua, R. Hague, C. Klemann, L. Kostyuchenko, T. Morio, A. Thatayatikom, A. Ozen, A. Scherbina, C. S. Bauer, S. E. Flanagan, E. Gambineri, L. Giovannini-Chami, J. Heimall, K. E. Sullivan, E. Allenspach, N. Romberg, S. G. Deane, B. T. Prince, M. J. Rose, J. Bohnsack, T. Mousallem, R. Jesudas, M. M. D. Santos Vilela, M. O’Sullivan, J. Pachlopnik Schmid, S. Pruhova, A. Klocperk, M. Rees, H. Su, S. Bahna, S. Baris, L. M. Bartnikas, A. Chang Berger, T. A. Briggs, S. Brothers, V. Bundy, A. Y. Chan, S. Chandrakasan, M. Christiansen, T. Cole, M. C. Cook, M. M. Desai, U. Fischer, D. A. Fulcher, S. Gallo, A. Gauthier, A. R. Gennery, J. Goncalo Marques, F. Gottrand, B. Grimbacher, E. Grunebaum, E. Haapaniemi, S. Hamalainen, K. Heiskanen, T. Heiskanen-Kosma, H. M. Hoffman, L. I. Gonzalez-Granado, A. L. Guerrerio, L. Kainulainen, A. Kumar, M. G. Lawrence, C. Levin, T. Martelius, O. Neth, P. Olbrich, A. Palma, N. C. Patel, T. Pozos, K. Preece, S. O. Lugo Reyes, M. A. Russell, Y. Schejter, C. Seroogy, J. Sinclair, E. Skevofilax, D. Suan, D. Suegeorgz, P. Szabolcs, H. Velasco, K. Warnatz, K. Walkovich, A. Worth, S. G. W. G. members, M. R. J. Seppanen, T. R. Torgerson, G. Sogkas, S. Ehl, S. G. Tangye, M. A. Cooper, J. D. Milner, and L. R. Forbes Satter. 2022. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. pii: S0091-6749(22)01182-4. doi: 10.1016/j.jaci.2022.09.002.

Schutze, K., M. Gross, K. Cornils, K. Wustrau, S. Schneppenheim, H. Lenhartz, G. C. Korenke, G. Janka, S. Ledig, I. Muller, S. Ehl, and K. Lehmberg. 2022. MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity. Blood Adv. pii: 486738. doi: 10.1182/bloodadvances.2022008195.

Ehl, S., and R. Thimme. 2022. Immune-mediated pathology as a consequence of impaired immune reactions: the IMPATH paradox. Eur J Immunol 52: 1386-1389. doi: 10.1002/eji.202250069.

Globig AM, Hipp AV, Otto-Mora P, Heeg M, Mayer LS, Ehl S, Schwacha H, Bewtra M, Tomov V, Thimme R, Hasselblatt P, Bengsch B. Nat Commun. 2022. High-dimensional profiling reveals Tc17 cell enrichment in active Crohn’s disease and identifies a potentially targetable signature. First published: 2022 Jun 27;13(1):3688. doi: 10.1038/s41467-022-31229-z. PMID: 35760777 Free PMC article.

Gross, M., C. Speckmann, A. May, T. Gajardo-Carrasco, K. Wustrau, S. L. Maier, M. Panning, D. Huzly, A. Agaimy, Y. T. Bryceson, S. Choo, C. W. Chow, G. Duckers, A. Fasth, S. Fraitag, K. Grawe, S. Haxelmans, D. Holzinger, O. Hudowenz, J. M. Hubschen, C. Khurana, K. Kienle, R. Klifa, K. Korn, H. Kutzner, T. Lammermann, S. Ledig, D. Lipsker, M. Meeths, N. Naumann-Bartsch, J. Rascon, A. Schanzer, M. Seidl, B. Tesi, C. Vauloup-Fellous, B. Vollmer-Kary, K. Warnatz, C. Wehr, B. Neven, P. Vargas, F. E. Sepulveda, K. Lehmberg, A. Schmitt-Graeff, and S. Ehl. 2022. Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity. J Allergy Clin Immunol 149: 388-399.e4. doi: 10.1016/j.jaci.2021.05.007.

Aichele P, Neumann-Haefelin C, Ehl S, Thimme R, Cathomen T, Boerries M, Hofmann M. 2022. Immunopathology caused by impaired CD8+ T-cell responses. Eur J Immunol. Jan 31. doi: 10.1002/eji.202149528. Online ahead of print.

Harder, I., M. Munchhalfen, G. Andrieux, Boerries, B. Grimbacher, H. Eibel, M. E. Maccari, S. Ehl, J. Wienands, J. Jellusova, K. Warnatz, and B. Keller. 2022. Dysregulated PI3K Signaling in B Cells of CVID Patients. Cells 11:464. doi: 10.3390/cells11030464.

Boeckelmann, D., M. Wolter, K. Neubauer, F. Sobotta, A. Lenz, H. Glonnegger, B. Kasmann-Kellner, J. Mann, S. Ehl, and B. Zieger. 2021. Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7). Front Pharmacol 12: 786937. doi: 10.3389/fphar.2021.786937

Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, Kobbe R, Warnatz K, Ehl S, Proietti M, Grimbacher B. 2021. Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study. Front Immunol. 12:786516. doi: 10.3389/fimmu.2021.786516.

Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. 2021. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17.

Meinhardt A, Ramos PC, Dohmen RJ, Lucas N, Lee-Kirsch MA, Becker B, de Laffolie J, Cunha T, Niehues T, Salzer U, Yoshimi A, Erlacher M, Peters AMJ, Ehl S, Strahm B, Speckmann C. 2021. Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation. J Clin Immunol. Jun 16. doi: 10.1007/s10875-021-01067-7

Lange M, Linden T, Müller HL, Flasskuehler MA, Koester H, Lehmberg K, Ledig S, Ehl S, Heep A, Beske F. 2021. Primary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant. Br J Haematol. 2021 Jun 16. doi: 10.1111/bjh.17669.

Ehl, S., T. von Bahr Greenwood, E. Bergsten, A. Fischer, J. I. Henter, M. Hines, K. Lehmberg, G. Janka, D. Moshous, and K. E. Nichols. Is neutralization of IFN-gamma sufficient to control inflammation in HLH? Pediatr Blood Cancer 68: e28886.

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

Maccari, M. E., S. Fuchs, P. Kury, G. Andrieux, S. Volkl, B. Bengsch, M. R. Lorenz, M. Heeg, J. Rohr, S. Jagle, C. N. Castro, M. Gross, U. Warthorst, C. Konig, I. Fuchs, C. Speckmann, J. Thalhammer, F. G. Kapp, M. G. Seidel, G. Duckers, S. Schonberger, C. Schutz, M. Fuhrer, R. Kobbe, D. Holzinger, C. Klemann, P. Smisek, S. Owens, G. Horneff, R. Kolb, N. Naumann-Bartsch, M. Miano, J. Staniek, M. Rizzi, T. Kalina, P. Schneider, A. Erxleben, R. Backofen, A. Ekici, C. M. Niemeyer, K. Warnatz, B. Grimbacher, H. Eibel, A. Mackensen, A. P. Frei, K. Schwarz, M. Boerries, S. Ehl, and A. Rensing-Ehl. 2021. A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS. J Exp Med 218(2):e20192191. doi: 10.1084/jem.20192191.

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.

Ehl, S., Astigarraga, T. von Bahr Greenwood, M. Hines, A. Horne, E. Ishii, G. Janka, M. B. Jordan, P. La Rosee, K. Lehmberg, R. Machowicz, K. E. Nichols, E. Sieni, Z. Wang, and J. I. Henter. 2018. Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society. J Allergy Clin Immunol Pract 6: 1508-1517.

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.