This study aims to explore the clinical and immunological implications of predicted loss-of-function variants in KI-67 in humans. KI-67 is best known as a marker for cell proliferation, but its broader roles in immune system regulation are only beginning to be uncovered. The rare patient population with these variants offers a unique opportunity to understand the function of KI-67 in immune regulation, particularly in B cell activity, and its impact on human disease.
