GENIUS (GENetically determined ImmUne-mediated EnteropathieS)

Person in charge:

Frank Ruemmele (chair)

39 active members from 16 European countries 1 member from Australia, 1 member from Brazil


Phenotypic and Genotypic caracterisation of early onset inflammatory/immunemediated enteropathies of Mendelian inheritance

Projects and other activity:

Ongoing projects:

  • Preparation of a longitudinal registry for patients with very early onset colitis and enteropathy (GENIUS-Immunobiota registry). Ethical clearance obtained in France and submitted in several European countries
  • Autoimmune enteropathy survey (37 cases identified) (Scientific steering committee: Helene Lengliné-Garnier, Paris, Jochen Kammermeier, London)
  • Clinical phenotyping and functional testing of children with mild and severe forms of autoimmune enteropathy (Scientific steering committee: Frank RUEMMELE and Mamoun ELAWAD)

Original Research Projects

  • Clinical phenotyping of very early-onset colitis due to defective IL10 axis
  • AIE phenotyping and functional testing
  • Diagnostic testing: over 100 samples of the GENIUS group, with ultimate diagnosis in 1/3 of patients (exome sequencing)


  1. Bénédicte Pigneur, Johanna Escher, Mamoun Elawad, Rosa Lima, Stephan Buderus, Jaroslaw Kierkus, Graziella Guariso, Danielle Canioni, Karen Lambot, Cécile Talbotec, Neil Shah, Bernadette Begue, Frédéric Rieux-Laucat, Olivier Goulet, Nadine Cerf-Bensussan, Bénédicte Neven, Frank M. Ruemmele. Phenotypic characterisation of very early-onset IBD due to mutations in the IL10, IL10Receptor alpha or beta gene – a survey of the GENIUS working group Inflammatory Bowel Disease 2013;19:2820-28.

Reports: -