In a retrospective study of patients with single/multilineage bone marrow failure presented at the Virtual Edition of the 25th European Hematology Association Annual Congress, the authors sought to identify the type and incidence of molecular and genetic defects related to bone marrow failure and primary immunodeficiency. A 146-gene and a 315-gene next-generation sequencing panel were used to investigate 97 patients. Approximately half had a genetic background, with primary immunodeficiency being the cause in a considerable number of cases.

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