Congenital Neutropenia: from Basic Research to the Clinic
XUE Chen, LONG Jing, YAO Yao*, RAO Shuquan*
Congenital neutropenia is a heterogeneous group of rare inherited bone marrow failure syndromes, which is characterized by impaired maturation of neutrophil granulocytes, and as a result, defined as dramatically reduced peripheral blood ANC (absolute neutrophil counts). Up till now, hundreds of genetic variants, involving ELANE, HAX1 and others, have been identified in patients of congenital neutropenia; however, due to lack of disease models, the molecular mechanisms of these genetic variants leading to congenital neutropenia have not yet been fully elucidated, which severely hampers development of therapeutic drugs and genome editing. In recent years, the development of gene editing technologies has paved new avenue for understanding the pathological mechanisms of congenital neutropenia and exploring novel therapeutic methods. This review will mainly focus on the progress of genetics and molecular mechanisms of congenital neutropenia, as well as clinical translations.
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