Immunological Perturbation in Patients with Birt-Hogg-Dube Syndrome


About this study

The purpose of this study is to determine whether FLCN mutations affect immune cell homeostasis and function.

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. If you need assistance understanding the eligibility criteria, please contact the study team.

Inclusion Criteria:

  • Clinically confirmed Birt-Hogg-Dube (BHD) syndrome
  • Specific FLCN mutations include c.1285dupC (p.His429ProfsX27), c.715C>T (p.Arg239Cys), c.764A>C (p.His255Pro), and c.610_611delGCinsTA (p.Ala204X).

Exclusion Criteria: 

  • Patients without above FLCN mutations.


Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Hu Zeng, Ph.D.

Open for enrollment

Contact information:

Danielle Vsetecka


More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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