Primary Immunodeficiencies Linked to Early-Onset GI Cancers

M. Alexander Otto, MMS, PA

February 07, 2022

The study covered in this summary was published on as a preprint and has not yet been peer reviewed.

Key Takeaways

  • Patients with primary immunodeficiencies, also known as inborn errors of immunity (IEIs), are at higher risk for early-onset gastrointestinal (GI) cancers.

  • These patients should be screened for GI cancers earlier than the general population.

Why This Matters

  • IEIs, which increase an individual's susceptibility to infections, autoimmune diseases, and allergies, have not generally been considered a risk factor for GI cancers. No practice guidelines exist for screening these patients for cancer.

  • Given the current findings, the authors recommend updating guidelines to recognize IEIs as a risk factor for GI cancers and to screen this population earlier.

Study Design

  • The investigators reviewed 149 patients diagnosed with both an IEI and GI cancer pulled from 76 publications in the medical literature.

Key Results

  • Of the 149 patients, most had gastric cancer (n = 95) or colorectal cancer (n = 35).

  • The most frequently occurring IEI was common variable immune deficiency (n = 88).

  • The mean age at gastric cancer diagnosis was 46 years, and the mean age at colorectal cancer diagnosis was 33 years — both significantly earlier than the general population, according to SEER data.

  • Impaired humoral immunity and Epstein-Barr virus infection were frequently reported as factors in early-onset malignancy.


  • No study limitations were reported.


  • The work was funded by the National Institutes of Health.

  • The investigators didn’t have any disclosures.

This is a summary of a preprint research study, "Immunogenetics of Gastrointestinal Cancers: A Systematic Review of Inborn Errors of Immunity in Humans," led by Beishi Zheng of Columbia University, New York City. The study has not been peer reviewed. The full text can be found at

M. Alexander Otto is a physician assistant with a master's degree in medical science. He is an award-winning medical journalist who worked for several major news outlets before joining Medscape and is an MIT Knight Science Journalism fellow. Email:

For more news, follow Medscape on Facebook, Twitter, Instagram, and YouTube.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.