Multi-Omic Characterization Of Common Variable Immunodeficiency

Universities and Institutes of Italy


September 30, 2022


  • Organisation/Company: Università degli Studi di Firenze - Dipartimento di Medicina Sperimentale e Clinica
  • Research Field: Medical sciences › Medicine
  • Researcher Profile: First Stage Researcher (R1) Recognised Researcher (R2) Established Researcher (R3) Leading Researcher (R4)
  • Application Deadline: 30/09/2022
  • Location: Italy
  • Type Of Contract: To be defined
  • Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency of adulthood. It is a heterogeneous disease in which recurrent infections are often associated to autoimmune or lymphoproliferative phenomena. Several causative genetic variants have been identified and the development of NGS techniques such as whole exome sequencing (WES) has enriched the number of responsible mutations. However, in most cases it is difficult to identify at genetic level the alteration responsible of the disease. In order to overcome these limitations, and to provide an additional layer of characterization of CVID patients that may be useful for therapeutic purposes, a transcriptome evaluation of peripheral blood mononuclear cells via single cell RNA sequencing will be performed in parallel to WES. In their complex the expected outcomes may allow to make a more correct diagnosis, and, as a consequence, to choose the right therapeutical approach for such patients

    Eligibility criteria

    Eligible destination country/ies for fellows:

  • Italy
  • Eligibility of fellows: country/ies of residence:

  • Eligibility of fellows: nationality/ies:

  • Web site for additional job details

    https: // www.

    Contact Information
  • Organisation/Company: Università degli Studi di Firenze - Dipartimento di Medicina Sperimentale e Clinica
  • Organisation Type: Public Research Institution
  • Website: https: // www.
  • Country: Italy
  • City: firenze
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