Abstract:Background/Aims: The immune system plays a key role in cancer surveillance and modulation of the tumor microenvironment. Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be prone to recurrent mucosal bacterial and viral infections and chronic inflammation, associated with intrinsic or secondary epithelium dysfunction, a potential risk factor for early-onset gastrointestinal (GI) cancer.
Methods: We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI … Show more
“…Zheng et al 46 described the prevalence of gastrointestinal cancer in IEI integrating 149 patients from 76 studies, in which CVID was the most frequent immunodeficiency linked to this type of malignancy. Of note, 12% of patients had molecular genetic diagnoses, the 3 most frequently implicated genes being ATM , CARMIL2 , and CTLA4 ; these genes are more involved with DNA repair and cancer development than with the own pathogenesis of CVID.…”
“…Zheng et al 46 described the prevalence of gastrointestinal cancer in IEI integrating 149 patients from 76 studies, in which CVID was the most frequent immunodeficiency linked to this type of malignancy. Of note, 12% of patients had molecular genetic diagnoses, the 3 most frequently implicated genes being ATM , CARMIL2 , and CTLA4 ; these genes are more involved with DNA repair and cancer development than with the own pathogenesis of CVID.…”
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