Genetic studies in Common Variable Immunodeficiency (CVID)


About this study

Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). The goal of this study is to perform whole exome sequencing (WES) to assess for monogenic defects that maybe be disease causing and may help in selection of appropriate therapeutic interventions including the possibility of  hemopoietic stem cell transplant (HSCT).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:    

  • All patients who meet the diagnostic criteria for CVID  

Exclusion Criteria:   

  • Infants below 6 months of age
  • Subjects unable to provide a research blood sample for any medical reason             

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Avni Joshi, M.D., M.S.

Open for enrollment

Contact information:

Kay Bachman R.N., C.C.R.C.

(507) 284-5689

More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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