My Research Interest in RESIST |
Currently, more than 350 genes are known to cause primary immunodeficiencies (PID). However, depending on the cohort studied, these 350 genes only explain about 15-60% of patients. Hence, other causative or contributing factors, such as epigenetic profiles, the regulation of gene expression, or the gut microbiome, need to be studied. Our main objectives in RESIST are: reducing the number of unsolved cases – since the majority of patients with immunodeficiency are currently undiagnosed -, improving our understanding on how the epigenome works and its role in primary immunodeficiency disease and understanding the relationship between the gut microbiome and disease severity and comorbidity in PID patients with malignancies, autoimmunity or inflammation.
Prof. Grimbacher about his scientific work
Prof. Dr. Bodo Grimbacher – Curriculum Vitae
Current Position
Undergraduate and Postgraduate Training
Academic and Research Posts
Other Scientific Roles
Awards and Prizes
10 Selected Publications
Rauer S, Marks R, Urbach H, Warnatz K, Nath A, Holland S, Weiller C, Grimbacher B. Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab. (Letter). N Engl J Med. 2019 Apr 10. [Letter, Epub ahead of print]
Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018 Jun 15;3(24).
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet. 2015 Sep 3;97(3):389-403. Epub 2015 Aug 13.
Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LS*, Sansom DM*, Grimbacher B*. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014 Dec;20(12):1410-6. *contributed equally
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Boudghene Stambouli O, Guellil B, Jacobs F, Goffard JC, Schepers K, del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Abel L, Lortholary O, Casanova JL*, Picard C*, Grimbacher B*, Puel A.* Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013 Oct 31;369(18):1704-14. *contributed equally
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B. Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity. Am J Hum Genet. 2012 Jun 8;90(6):986-1001 . Epub 2012 May 16.
Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B. Infant colitis–it’s in the genes. Lancet. 2010 Oct 9;376(9748):1272.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B*, Klein C*. Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor. N Engl J Med. 2009 Nov 19;361(21):2033- 45. *contributed equally
Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar A, Plebani A, Hannesschläger N, Gross O, Ruland J, Grimbacher B. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009 Oct 29;361(18):1727-35.
Holland SM, Deleo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schaffer A, Puck JM*, Grimbacher B*. STAT3 Mutations in the Hyper- IgE Syndrome. N Engl J Med. 2007 Oct 18;357(16):1608-19. *contributed equally