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. 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:

  • 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 the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Hu Zeng, Ph.D.

Closed for enrollment

More information


Publications are currently not available

Mayo Clinic Footer