Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI)
Medical Center – University of Freiburg
Breisacher Str. 115
79106 Freiburg i. Brsg.
- +49 (0) 761/ 270 – 77731
- bodo.grimbacher@uniklinik-freiburg.de
- Homepage
Current position
Professor, Institute for Immunodeficiency, Center for Chronic Immunodeficiency,
Medical Center – University of Freiburg
Academic training
| 1988 – 1995 | Study of Medicine in Aachen, Freiburg and Hamburg |
Scientific qualifications
| 2006 | Habilitation in Internal Medicine, University of Freiburg (Mentor: Prof. H. H. Peter) |
| 1995 | Dissertation in Medicine, University of Freiburg (Supervisor: Prof. H. Eibel) |
Postgraduate Positions
| 2011 – 2018 | W3 Professor, Scientific Director and consultant at the CCI, Medical Center - University of Freiburg |
| 2006 – 2011 | Consultant and Head of Marie-Curie Research Group, Dept. of Immunology, Royal Free Hospital & University College London, UK |
| 2000 – 2006 | Assistant lecturer and Emmy Noether-Fellow of the DFG, Division of Rheumatology and Clinical Immunology, Medical Center – University of Freiburg |
| 1997 – 2000 | Postdoctorate, NIH, National Human Genome Institute, Bethesda, MD, USA |
| 1995 – 1997 | Postdoctorate, Division of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg |
Miscellaneous (Honors, Awards)
| 2009 | Thieme Research Prize of the Leopoldina, Halle |
| 2007 | Rudolph-Schoen Prize, Hannover Medical School |
| 2006 | Marie-Curie Excellence Award of the European Commission |
| 2006 | Georges Köhler Award of the German Immunology Society |
| 2002 | Admission to the Emmy Noether Program of the German Research Foundation |
link to all publications from B. Grimbacher: Pubmed
Publications based on CRC1160 funding
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. 2024. GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. J Allergy Clin Immunol. 153(3):831-843. doi: 10.1016/j.jaci.2023.11.022.
Czech M, Schneider S, Peltokangas N, El Khawanky N, Ghimire S, Andrieux G, Hülsdünker J, Krausz M, Proietti M, Braun LM, Rückert T, Langenbach M, Schmidt D, Martin I, Wenger V, de Vega E, Haring E, Pourjam M, Pfeifer D, Schmitt-Graeff A, Grimbacher B, Aumann K, Kircher B, Tilg H, Raffatellu M, Thiele Orberg E, Häcker G, Duyster J, Köhler N, Holler E, Nachbaur D, Boerries M, Gerner RR, Grün D, Zeiser R. 2024. Lipocalin-2 expression identifies an intestinal regulatory neutrophil population during acute graft-versus-host disease. Sci Transl Med. 2024 Feb 21;16(735):eadi1501. doi: 10.1126/scitranslmed.adi1501.
Ramirez NJ, Schulze J, Walter S, Werner J, Mrovecova P, Olek S, Sachsenmaier C, Grimbacher B, Salzer U. 2024. Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies. Clin Immunol. 31:109920. doi: 10.1016/j.clim.2024.109920.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. 2024. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. J Allergy Clin Immunol. 153(1):230-242. doi: 10.1016/j.jaci.2023.08.036.
Rensing-Ehl, A., M. R. Lorenz, M. Fuhrer, W. Willenbacher, E. Willenbacher, S. Sopper, M. Abinun, M. E. Maccari, C. Konig, P. Haegele, S. Fuchs, C. Castro, P. Kury, O. Pelle, C. Klemann, M. Heeg, J. Thalhammer, O. Wegehaupt, M. Fischer, S. Goldacker, B. Schulte, S. Biskup, P. Chatelain, V. Schuster, K. Warnatz, B. Grimbacher, A. Meinhardt, D. Holzinger, P. T. Oommen, T. Hinze, H. Hebart, K. Seeger, K. Lehmberg, T. R. Leahy, A. Claviez, S. Vieth, F. H. Schilling, I. Fuchs, M. Gross, F. Rieux-Laucat, A. Magerus, C. Speckmann, K. Schwarz, S. Ehl, and A. s. group. 2023. Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. J Allergy Clin Immunol. doi:10.1016/j.jaci.2023.11.006.
Rolles, B., A. Caballero-Oteyza, M. Proietti, S. Goldacker, K. Warnatz, N. Camacho-Ordonez, S. Prader, J. P. Schmid, M. Vieri, S. Isfort, R. Meyer, M. Kirschner, T. H. Brummendorf, F. Beier, and B. Grimbacher. 2023. Telomere biology disorders may manifest as common variable immunodeficiency (CVID). Clin Immunol 257: 109837. doi:10.1016/j.clim.2023.109837.
Peng XP, Al-Ddafari MS, Caballero-Oteyza A, El Mezouar C, Mrovecova P, Dib SE, Massen Z, Smahi MC, Faiza A, Hassaïne RT, Lefranc G, Aribi M, Grimbacher B. 2023. Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs). Clin Immunol. 256:109758. doi: 10.1016/j.clim.2023.109758.
Ochoa S, Abers MS, Rosen LB, Rump A, Howe K, Lieberman JA, Wright BL, Suez D, Krausz M, Grimbacher B, Lionakis MS, Uzel G. 2023. Management and outcome of COVID-19 in CTLA-4 insufficiency. Blood Adv. 7(19):5743-5751. doi: 10.1182/bloodadvances.2023010105.
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.
Rojas-Restrepo J, Sindram E, Zenke S, Haberstroh H, Mitsuiki N, Gabrysch A, Huebscher K, Posadas-Cantera S, Krausz M, Kobbe R, Rohr JC, Grimbacher B, Gámez-Díaz L. 2023. Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry. J Clin Immunol. doi: 10.1007/s10875-023-01582-9.
Alizadeh, Z., M. R. Fazlollahi, M. Mazinani, M. Badalzadeh, H. Heydarlou, R. Carapito, A. Molitor, A. C. G. de Oteyza, M. Proietti, M. S. Bavani, M. Shariat, M. Fallahpour, M. Movahedi, L. Moradi, B. Grimbacher, S. Bahram, and Z. Pourpak. 2023. Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing. Genes Immun 24: 207-214. doi: 10.1038/s41435-023-00215-w.
Smits, B., S. Goldacker, S. Seneviratne, M. Malphettes, H. Longhurst, O. E. Mohamed, C. Witt-Rautenberg, L. Leeman, E. Schwaneck, I. Raymond, K. Meghit, A. Uhlmann, C. Winterhalter, J. van Montfrans, M. Klima, S. Workman, C. Fieschi, L. Lorenzo, S. Boyle, S. Onyango-Odera, S. Price, M. Schmalzing, V. Aurillac, A. Prasse, I. Hartmann, J. J. Meerburg, M. Kemner-van de Corput, H. Tiddens, B. Grimbacher, P. Kelleher, S. Y. Patel, A. S. Korganow, J. F. Viallard, H. P. Tony, C. Bethune, H. Schulze-Koops, T. Witte, A. Huissoon, H. Baxendale, S. Grigoriadou, E. Oksenhendler, S. O. Burns, and K. Warnatz. 2023. The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease. J Allergy Clin Immunol 152: 528-537. doi: 10.1016/j.jaci.2022.12.813.
Sindram E, Caballero-Oteyza A, Kogata N, Huang S, Alizadeh Z, Gamez-Díaz L, Fazlollahi MR, Peng X, Grimbacher B, Way M, Proietti M. 2023. ARPC5 deficiency leads to severe early onset systemic inflammation and mortality. Dis Model Mech. 2023 Jun 29:dmm.050145. doi: 10.1242/dmm.050145.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. 2023. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. JAMA Netw Open. 2023 6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894.
Ott N, Faletti L, Heeg M, Andreani V, Grimbacher B. 2023. JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences. J Clin Immunol. 2023 May 4. doi: 10.1007/s10875-023-01483-x.
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.
Nöltner C, Bulashevska A, Hübscher K, Haberstroh H, Grimbacher B, Proietti M. 2023. Fecal Immunoglobulin Levels as a Modifier of the Gut Microbiome in Patients with Common Variable Immunodeficiency. J Clin Immunol. Mar 24. doi: 10.1007/s10875-023-01469-9.
Lim YW, Ramirez NJ, Asensio MA, Chiang Y, Müller G, Mrovecova P, Mitsuiki N, Krausz M, Camacho-Ordonez N, Warnatz K, Adler AS, Grimbacher B. 2023. Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility. J Clin Immunol. Feb 24. doi: 10.1007/s10875-023-01448-0.
Strohmeier V, Andrieux G, Unger S, Pascual-Reguant A, Klocperk A, Seidl M, Marques OC, Eckert M, Gräwe K, Shabani M, von Spee-Mayer C, Friedmann D, Harder I, Gutenberger S, Keller B, Proietti M, Bulashevska A, Grimbacher B, Provaznik J, Benes V, Goldacker S, Schell C, Hauser AE, Boerries M, Hasselblatt P, Warnatz K. 2023. Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency-Associated Villous Atrophy and Norovirus Infection. J Clin Immunol. 43(2):371-390. doi: 10.1007/s10875-022-01379-2.
Rush-Kittle, J., L. Gamez-Diaz, and B. Grimbacher. 2022. Inborn errors of immunity associated with defects of self-tolerance checkpoints: The CD28 family. Pediatr Allergy Immunol 33: e13886. doi: 10.1111/pai.13886.
Krausz, M., N. Mitsuiki, V. Falcone, J. Komp, S. Posadas-Cantera, H. M. Lorenz, J. Litzman, D. Wolff, M. Kanariou, A. Heinkele, C. Speckmann, G. Hacker, H. Hengel, L. Gamez-Diaz, and B. Grimbacher. 2022. Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? Front Immunol 13: 1011646. doi: 10.3389/fimmu.2022.1011646.
Strohmeier, V., G. Andrieux, S. Unger, A. Pascual-Reguant, A. Klocperk, M. Seidl, O. C. Marques, M. Eckert, K. Grawe, M. Shabani, C. von Spee-Mayer, D. Friedmann, I. Harder, S. Gutenberger, B. Keller, M. Proietti, A. Bulashevska, B. Grimbacher, J. Provaznik, V. Benes, S. Goldacker, C. Schell, A. E. Hauser, M. Boerries, P. Hasselblatt, and K. Warnatz. 2022. Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency-Associated Villous Atrophy and Norovirus Infection. J Clin Immunol. pii: 10.1007/s10875-022-01379-2. doi: 10.1007/s10875-022-01379-2.
Konig, S., M. Fliegauf, M. Rhiel, B. Grimbacher, T. I. Cornu, T. Cathomen, and C. Mussolino. 2022. Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells. Genes (Basel) 13: pii: genes13101912. doi: 10.3390/genes13101912.
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.
Krausz, M., A. Uhlmann, I. C. Rump, G. Ihorst, S. Goldacker, G. Sogkas, S. Posadas-Cantera, R. Schmidt, M. Feisst, L. Alsina, I. Dybedal, M. Recher, Warnatz, and B. Grimbacher. 2022. The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial. Contemp Clin Trials Commun 30: 101008. doi: 10.1016/j.conctc.2022.101008.
Fliegauf, M., M. Kinnunen, S. Posadas-Cantera, N. Camacho-Ordonez, H. Abolhassani, L. Alsina, F. Atschekzei, D. J. Bogaert, S. O. Burns, J. A. Church, G. Duckers, A. F. Freeman, L. Hammarstrom, L. G. Hanitsch, T. Kerre, R. Kobbe, S. O. Sharapova, K. Siepermann, C. Speckmann, S. Steiner, N. Verma, J. E. Walter, E. Westermann-Clark, S. Goldacker, K. Warnatz, M. Varjosalo, and B. Grimbacher. 2022. Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50. Front Immunol 13: 965326. doi: 10.3389/fimmu.2022.965326.
Ramirez, N., S. Posadas-Cantera, N. Langer, A. C. G. de Oteyza, M. Proietti, B. Keller, F. Zhao, V. Gernedl, M. Pecoraro, H. Eibel, K. Warnatz, E. Ballestar, R. Geiger, C. Bossen, and B. Grimbacher. 2022. Multi-omics analysis of naive B cells of patients harboring the C104R mutation in TACI. Front Immunol 13: 938240. doi: 10.3389/fimmu.2022.938240.
Saghafi, S., F. Zandieh, M. R. Fazlollahi, C. Glocker, N. Frede, M. Buchta, L. Yang, A. H. Mahmoudi, M. Houshmand, Z. Pourpak, B. Grimbacher, and M. Moin. 2022. Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations. Iran J Allergy Asthma Immunol 21: 355-363. doi: 10.18502/ijaai.v21i3.9809.
Wan, R., M. Schieck, A. Caballero-Oteyza, W. Hofmann, A. V. Cochino, A. Shcherbina, R. Sherkat, C. Wache-Mainier, A. Fernandez, M. Sultan, T. Illig, B. Grimbacher, M. Proietti, and D. Steinemann. 2022. Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains. J Clin Immunol 42: 1083-1092. doi: 10.1007/s10875-022-01276-8.
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.
James AE, West L, Schloss K, Nataraj P, Urban A, Hirsch A, Krausz M, Kumar S, Raasch J, Risma K, Church JA, Grimbacher B, Bergerson JRE, Chong H, Freeman AF. 2022. Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation. J Allergy Clin Immunol Pract. Jan 24:S2213-2198(22)00027-7.
Sperlich JM, Grimbacher B, Soetedjo V, Workman S, Burns SO, Lowe DM, Hurst JR. 2022. Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders. J Clin Immunol. 2022 Jan 11. doi: 10.1007/s10875-022-01206-8.
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.
Yang L, Booth C, Speckmann C, Seidel MG, Worth AJ, Kindle G, Lankester AC, B G; ESID Clinical and Registry Working Parties, Gennery AR, Seppanen MR, Morris EC, Burns SO. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.2021. J Allergy Clin Immunol. S0091-6749(21)02597-5. doi: 10.1016/j.jaci.2021.10.037. Online ahead of print.
Peng, X. P., A. Caballero-Oteyza, and B. Grimbacher. 2022. Common Variable Immunodeficiency: More Pathways than Roads to Rome. Annu Rev Pathol. doi: 10.1146/annurev-pathmechdis-031521-024229.
van Schewick CM, Lowe DM, Burns SO, Workman S, Symes A, Guzman D, Moreira F, Watkins J, Clark I, Grimbacher B. 2021. Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation. J Clin Immunol. doi: 10.1007/s10875-021-01104-5. Online ahead of print.
Haring E, Andrieux G, Uhl FM, Krausz M, Proietti M, Sauer B, Esser PR, Martin SF, Pfeifer D, Schmitt-Graeff A, Duyster J, Köhler N, Grimbacher B, Boerries M, Aumann K, Zeiser R, Apostolova P. 2021. Therapeutic targeting of endoplasmic reticulum stress in acute graft-versus-host disease. Haematologica. doi: 10.3324/haematol.2021.278387.
Salzer U, Grimbacher B. 2021. TACI deficiency – a complex system out of balance. Curr Opin Immunol. 71:81-88.
Volk T, Warnatz K, Marks R, Urbach H, Schluh G, Strohmeier V, Rojas-Restrepo J, Grimbacher B, Rauer S. 2021. Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients. J Neurol. 2021 Jul 1. doi: 10.1007/s00415-021-10682-8.
Ramirez NJ, Posadas-Cantera S, Caballero-Oteyza A, Camacho-Ordonez N, Grimbacher B. 2021. There is no gene for CVID – novel monogenetic causes for primary antibody deficiency. Curr Opin Immunol. 2021 Jun 18;72:176-185.
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. 2021. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. S0091-6749(21)00891-5.
Català-Moll F, Ferreté-Bonastre AG, Li T, Weichenhan D, Lutsik P, Ciudad L, Álvarez-Prado ÁF, Rodríguez-Ubreva J, Klemann C, Speckmann C, Vilas-Zornoza A, Abolhassani H, Martínez-Gallo M, Dieli-Crimi R, Rivière JG, Martín-Nalda A, Colobran R, Soler-Palacín P, Kracker S, Hammarström L, Prosper F, Durandy A, Grimbacher B, Plass C, Ballestar E. 2021. Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction. Nucleic Acids Res. 49(9):5057-5073.
Fliegauf M, Krüger R, Steiner S, Hanitsch LG, Büchel S, Wahn V, von Bernuth H, Grimbacher B. 2021. A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage. Front Immunol. 12:621503.
Gámez-Díaz L, Grimbacher B. 2021. Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes. Biomed J. 19:S2319-4170(21)00038-X. doi: 10.1016/j.bj.2021.04.005.
Wang, L., D. Aschenbrenner, Z. Zeng, X. Cao, D. Mayr, M. Mehta, M. Capitani, N. Warner, J. Pan, L. Wang, Q. Li, T. Zuo, S. Cohen-Kedar, J. Lu, R. C. Ardy, D. J. Mulder, D. Dissanayake, K. Peng, Z. Huang, X. Li, Y. Wang, X. Wang, S. Li, S. Bullers, A. N. Gammage, K. Warnatz, A. I. Schiefer, G. Krivan, V. Goda, W. H. A. Kahr, M. Lemaire, C. Genomics England Research, C. Y. Lu, I. Siddiqui, M. G. Surette, D. Kotlarz, K. R. Engelhardt, H. R. Griffin, R. Rottapel, H. Decaluwe, R. M. Laxer, M. Proietti, S. Hambleton, S. Elcombe, C. H. Guo, B. Grimbacher, I. Dotan, S. C. Ng, S. A. Freeman, S. B. Snapper, C. Klein, K. Boztug, Y. Huang, D. Li, H. H. Uhlig, and A. M. Muise. 2021. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet 53: 500-510.
Camacho-Ordonez N, Ballestar E, Timmers HTM, Grimbacher B. 2021. What can clinical immunology learn from inborn errors of epigenetic regulators? J Allergy Clin Immunol. 147(5):1602-1618. doi: 10.1016/j.jaci.2021.01.035. Epub 2021 Feb 17.
Harrison SC, Tsilifis C, Slatter MA, Nademi Z, Worth A, Veys P, Ponsford MJ, Jolles S, Al-Herz W, Flood T, Cant AJ, Doffinger R, Barcenas-Morales G, Carpenter B, Hough R, Haraldsson Á, Heimall J, Grimbacher B, Abinun M, Gennery AR. 2021. Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome. J Clin Immunol. doi: 10.1007/s10875-021-00971-2. Online ahead of print.
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.
van Schewick CM, Nöltner C, Abel S, Burns SO, Workman S, Symes A, Guzman D, Proietti M, Bulashevska A, Moreira F, Soetedjo V, Lowe DM, Grimbacher B. 2020. Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea. Front Immunol. 11:1654. doi: 10.3389/fimmu.2020.01654. eCollection 2020.
Haring E, Uhl FM, Andrieux G, Proietti M, Bulashevska A, Sauer B, Braun LM, de Vega Gomez E, Esser PR, Martin SF, Pfeifer D, Follo M, Schmitt-Graeff A, Buescher J, Duyster J, Grimbacher B, Boerries M, Pearce EL, Zeiser R, Apostolova P. Haematologica. 2020. Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect. Jul 16:haematol.2019.242990. doi: 10.3324/haematol.2019.242990. Online ahead of print.
Wolf T, Jin W, Zoppi G, Vogel IA, Akhmedov M, Bleck CKE, Beltraminelli T, Rieckmann JC, Ramirez NJ, Benevento M, Notarbartolo S, Bumann D, Meissner F, Grimbacher B, Mann M, Lanzavecchia A, Sallusto F, Kwee I, Geiger R. 2020. Dynamics in protein translation sustaining T cell preparedness. Nat Immunol. 21(8):927-937. doi: 10.1038/s41590-020-0714-5. Epub 2020 Jul 6.
Norona, J., P. Apostolova, D. Schmidt, R. Ihlemann, N. Reischmann, G. Taylor, N. Kohler, J. de Heer, S. Heeg, G. Andrieux, B. A. Siranosian, A. Schmitt-Graeff, D. Pfeifer, A. Catalano, I. Frew, M. Proietti, B. Grimbacher, A. Bulashevska, A. S. Bhatt, T. Brummer, T. S. Clauditz, T. Zabelina, N. Kroeger, B. R. Blazar, M. Boerries, F. Ayuk, and R. Zeiser. 2020. Glucagon like peptide-2 for Intestinal stem cell and Paneth cell repair during graft-versus-host disease in mice and humans. Blood. 2020005957. doi: 10.1182/blood.2020005957. Online ahead of print.
Beziat, V., S. J. Tavernier, Y. H. Chen, C. S. Ma, M. Materna, A. Laurence, J. Staal, D. Aschenbrenner, L. Roels, L. Worley, K. Claes, L. Gartner, L. A. Kohn, M. De Bruyne, K. Schmitz-Abe, L. M. Charbonnier, S. Keles, J. Nammour, N. Vladikine, M. R. L. Maglorius Renkilaraj, Y. Seeleuthner, M. Migaud, J. Rosain, M. Jeljeli, B. Boisson, E. Van Braeckel, J. A. Rosenfeld, H. Dai, L. C. Burrage, D. R. Murdock, B. N. Lambrecht, V. Avettand-Fenoel, T. P. Vogel, N. Undiagnosed Diseases, C. R. Esther, S. Haskologlu, F. Dogu, P. Ciznar, D. Boutboul, M. Ouachee-Chardin, J. Amourette, M. N. Lebras, C. Gauvain, C. Tcherakian, A. Ikinciogullari, R. Beyaert, L. Abel, J. D. Milner, B. Grimbacher, L. J. Couderc, M. J. Butte, A. F. Freeman, E. Catherinot, C. Fieschi, T. A. Chatila, S. G. Tangye, H. H. Uhlig, F. Haerynck, J. L. Casanova, and A. Puel. 2020. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217. pii: e20191804. doi: 10.1084/jem.20191804.
Troilo, A., C. Wehr, I. Janowska, N. Venhoff, J. Thiel, J. Rawluk, N. Frede, J. Staniek, R. Lorenzetti, M. T. Schleyer, G. W. Herget, L. Konstantinidis, M. Erlacher, M. Proietti, N. Camacho-Ordonez, R. E. Voll, B. Grimbacher, K. Warnatz, U. Salzer, and M. Rizzi. 2020. Nonpermissive bone marrow environment impairs early B-cell development in common variable immunodeficiency. Blood 135: 1452-1457.
Cekic, S., J. M. Hartberger, S. Frey-Jakobs, H. Huriyet, M. B. Hortoglu, J. C. Neubauer, Y. Karali, C. D. Abakay, O. Saraydaroglu, T. Cavas, B. Grimbacher, and S. S. Kilic. 2020. Cancer Tendency in a Patient with ZNF341 Deficiency. J Clin Immunol. doi: 10.1007/s10875-020-00756-z. [Epub ahead of print]
Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F. 2019. Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1. Front Immunol. 10:2618.
van de Ven A, Mader I, Wolff D, Goldacker S, Fuhrer H, Rauer S, Grimbacher B, Warnatz K. 2019. Structural non-infectious manifestations of the central nervous system in common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. pii: S2213-2198(19)31026-8.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. 2019. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 143(4):1482-1495.
Vandrovcova J, Salzer U, Grimbacher B, Wanders J, Rao K, Thrasher A, Burns S, Gilmore K, Bussel J, Cooper N. 2019. FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency. Br J Haematol. 186(6):e163-e165.
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.
Eskandarian, Z., M. Fliegauf, A. Bulashevska, M. Proietti, R. Hague, C. R. Smulski, D. Schubert, Warnatz, and B. Grimbacher. 2019. Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency. Front Immunol 10: 568.
Mitsuiki, N., C. Schwab, and B. Grimbacher. 2019. What did we learn from CTLA-4 insufficiency on the human immune system? Immunol Rev 287: 33-49.
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B. 2019. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. Front Immunol. 10:297.
Stefanie Frey-Jakobs, Julia M. Hartberger, Manfred Fliegauf, Claudia Bossen, Magdalena L. Wehmeyer, Johanna C. Neubauer, Alla Bulashevska, Michele Proietti, Philipp Fröbel, Christina Nöltner, Linlin Yang, Jessica Rojas-Restrepo, Niko Langer, Sandra Winzer, Karin R. Engelhardt, Cristina Glocker, Dietmar Pfeifer, Adi Klein, Alejandro A. Schäffer, Irina Lagovsky, Idit Lachover-Roth, Vivien Béziat, Anne Puel, Jean-Laurent Casanova, Bernhard Fleckenstein, Stephan Weidinger, Sara S. Kilic, Ben-Zion Garty, Amos Etzioni, and Bodo Grimbacher. 2018. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 15(24). pii: eaat4941.
Egg, D., C. Schwab, A. Gabrysch, P. D. Arkwright, E. Cheesman, L. Giulino-Roth, O. Neth, S. Snapper, S. Okada, M. Moutschen, P. Delvenne, A. C. Pecher, D. Wolff, Y. J. Kim, S. Seneviratne, K. M. Kim, J. M. Kang, S. Ojaimi, C. McLean, Warnatz, M. Seidl, and B. Grimbacher. 2018. Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. Front Immunol 9: 2012.
Fliegauf, M., and Grimbacher. 2018. Nuclear factor kappaB mutations in human subjects: The devil is in the details. J Allergy Clin Immunol 142: 1062-1065.
Jung, S., L. Gamez-Diaz, M. Proietti, and Grimbacher. 2018. Immune TOR-opathies, a Novel Disease Entity in Clinical Immunology. Front Immunol 9: 966.
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.
Schmidt RE, Grimbacher B, Witte T. 2017. Autoimmunity and primary immunodeficiency: two sides of the same coin? Nat Rev Rheumatol. 14(1):7-18. Review.
Gamez-Diaz, L., J. Neumann, F. Jager, M. Proietti, F. Felber, P. Soulas-Sprauel, L. Perruzza, F. Grassi, T. Kogl, Aichele, M. Kilimann, B. Grimbacher, and S. Jung. 2017. Immunological phenotype of the murine Lrba knockout. Immunol Cell Biol 95: 789-802.
