TürkiyeDiagnosis and screening
Gene changes possibly linked to the disease found in 12 of 30 adults with CVID in Istanbul
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University. In thirty patients, 451 immune-related genes were screened. A change possibly linked to the disease was found in 12 patients, or 40%. The most frequently changed gene was TNFRSF13B. In some patients, it turned out that the condition was actually due to another immune disease.
What does it mean for patients and families?
Genetic testing can also clarify the diagnosis in patients diagnosed in adulthood and guide treatment and family counseling. An immunologist decides who needs the test.
Source
Scientific paper: Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort. Immunologic Research, 2025. DOI: 10.1007/s12026-025-09699-2 · PubMed 41071379
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Common variable immunodeficiency (CVID)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.