Prof. Dr. Michele Proietti participates in RESIST research project A5.
My Research Interest in RESIST |
Within RESIST we work in close collaboration with Professor Dr. Torsten Witte (MHH) and with Prof. Bodo Grimbacher (Institute for Immunodeficiency IFI, Center of Chronic Immunodeficiency, CCI, Uniklinikum Freiburg Freiburg). We are interested in identifying the genetic changes in our genome that can cause increased susceptibility to infections and immune-mediated pathology. I’am in particular interested in ADA2 and genes involved in the regulation of the nucleic acid sensing and type-I interferon response. Nucleic acid sensing and type-I interferon response are extraordinary instruments to protect the host from invading pathogens; however if not properly regulated their activation is at risk of triggering potentially life-threatening inflammation, as seen in auto-inflammatory syndromes and more recently in the outbreak of covid 19. Moreover, together with my cooperation partners in Freiburg I am currently developing a bioinformatics immunogenetic platform that integrates bioinformatics pipeline with a dedicated database for the analysis of genetic data in subjects with immune mediated diseases.
Prof. Proietti
Prof. Dr. Michele Proietti – Curriculum Vitae
Current Position
Undergraduate and Postgraduate Training
Academic and Research Posts
Awards and Prizes
10 Selected Publications
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. A Caballero-Oteyza, L Crisponi, XP Peng, K Yauy, S Volpi, S Giardino, … Journal of Allergy and Clinical Immunology 153 (3), 831-843
OTULIN-related conditions: Report of a new case and review of the literature using GenIA. A Caballero-Oteyza, L Crisponi, XP Peng, H Wang, P Mrovecova, S Olla, …Clinical Immunology, 110292
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality. E Sindram, A Caballero-Oteyza, N Kogata, S Chor Mei Huang, Z Alizadeh, … Disease models & mechanisms 16 (7)
Copy number analysis in a large cohort suggestive of inborn errors of immunity indicates a wide spectrum of relevant chromosomal losses and gains R Wan, M Schieck, A Caballero-Oteyza, W Hofmann, AV Cochino, …Journal of clinical immunology 42 (5), 1083-1092 *co-last author
Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a monocentric study. J Rojas-Restrepo, A Caballero-Oteyza, K Huebscher, H Haberstroh, … Frontiers in Immunology 12, 786516. *co-last author
Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood
J Schepp, M Proietti, N Frede, M Buchta, K Hübscher, J Rojas Restrepo, … Arthritis & Rheumatology 69 (8), 1689-1700. *co-first author
ATP-gated ionotropic P2X7 receptor controls follicular T helper cell numbers in Peyer’s patches to promote host-microbiota mutualism
M Proietti, V Cornacchione, TR Jost, A Romagnani, CE Faliti, L Perruzza, … Immunity 41 (5), 789-801
ATP released by intestinal bacteria limits the generation of protective IgA against enteropathogens M Proietti, L Perruzza, D Scribano, G Pellegrini, R D’Antuono, F Strati, … Nature communications 10 (1), 250
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. L Wang, D Aschenbrenner, Z Zeng, X Cao, D Mayr, M Mehta, M Capitani, … Nature genetics 53 (4), 500-510
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. P Kury, J Staniek, O Wegehaupt, I Janowska, M Eckenweiler, … Journal of Allergy and Clinical Immunology 147 (5), 1977-1980