Bone Marrow Failure and Leukemia Predisposition Syndromes

Dear Colleagues,

Bone marrow failure syndromes (BMF) are a group of rare inherited or acquired disorders where bone marrow fails to produce a sufficient number of blood cells, resulting in pancytopenia. These conditions may be linked to germline mutations in cancer-predisposing genes that, nowadays, may be detected in 5 to 20% of cancer patients, with different prevalence among tumor types. So far, more than 100 cancer-predisposing genes have been related to hereditary syndromes.

BMFS may present clonal hematopoiesis (CH), which is defined by the clonal expansion of hematopoietic stem and progenitor cells harboring somatic mutations that confer a proliferative advantage. CH is common with advancing age and is associated with an increased risk of hematologic malignancies, particularly myeloid neoplasms (MN). Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, potentially life-threatening hematological disease characterized by chronic complement-mediated hemolysis, high prevalence of thrombosis, and BMF. This disease is considered a paradigm for targeted therapy based on complement inhibitors. Furthermore, some of these diseases may be treated with innovative cell therapy approaches, including gene therapy, making them an attractive field for translational research.

This Special Issue of Immuno aims to collect original papers and commentaries in several areas of investigations concerning BMFS, including preclinical and clinical studies, as well as novel therapeutic interventions.

Prof. Dr. Toshihiko Torigoe
Prof. Dr. Francesco Lanza
Guest Editors

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