Kotaro Ogawa, Tomohiro Yata, Yuto Hayashi, Tatsusada Okuno
Clonal hematopoiesis (CH) results from somatic mutations in hematopoietic stem and progenitor cells. These mutations promote the expansion of mutant clones, which constitute a substantial proportion of peripheral blood cells. This review focuses on two representative manifestations of CH: point mutations, termed clonal hematopoiesis of indeterminate potential, and large chromosomal alterations, termed mosaic chromosomal alterations. Although CH is associated with an increased risk of hematological malignancies and cardiovascular diseases, recent studies have expanded its relevance to age-related disorders. Despite the increasing number of reviews on CH, studies focusing on immune and neurological disorders are limited. This review discusses the potential role of CH as more than an incidental finding, considering its involvement in the pathogenesis of immune-mediated and neurological disorders. We also summarize recent findings, provide a structured overview of the current knowledge, and highlight the potential mechanisms by which CH may influence systemic diseases.